{"id":3569,"date":"2026-04-15T10:35:21","date_gmt":"2026-04-15T07:35:21","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=3569"},"modified":"2026-04-15T11:10:54","modified_gmt":"2026-04-15T08:10:54","slug":"isoform-deficiencies-in-duchenne-muscular-dystrophy","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/zh\/isoform-deficiencies-in-duchenne-muscular-dystrophy\/","title":{"rendered":"\u5916\u663e\u5b50\u7f3a\u5931\u548c\u4e9a\u578b\u7f3a\u9677\u5bf9\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u7684\u5f71\u54cd"},"content":{"rendered":"<p class=\"wp-block-paragraph\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u662f\u4e00\u79cd\u4e25\u91cd\u7684\u8fdb\u884c\u6027\u795e\u7ecf\u808c\u8089\u75be\u75c5\uff0c\u7531\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u3002\u5176\u4e2d\uff0c\u5916\u663e\u5b50\u7f3a\u5931\u548c\u4e9a\u578b\u7f3a\u9677\u5bf9\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u7684\u75be\u75c5\u53d8\u5f02\u6027\u3001\u4e25\u91cd\u7a0b\u5ea6\u548c\u591a\u7cfb\u7edf\u53d7\u7d2f\u8d77\u7740\u6838\u5fc3\u4f5c\u7528\u3002. <strong>\u8fd9\u4e9b\u7a81\u53d8\u4e0d\u4ec5\u7834\u574f\u4e86\u5168\u957f\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff0c\u8fd8\u7834\u574f\u4e86\u8f83\u77ed\u7684\u4e9a\u578b\uff0c\u5982 Dp427\u3001Dp260\u3001Dp140\u3001Dp116\u3001Dp71 \u548c Dp40\uff0c\u5bfc\u81f4\u590d\u6742\u7684\u4e34\u5e8a\u7ed3\u679c\uff0c\u4e0d\u4ec5\u9650\u4e8e\u808c\u8089\u9000\u5316\uff0c\u8fd8\u4f1a\u5bfc\u81f4\u8ba4\u77e5\u3001\u89c6\u7f51\u819c\u548c\u5468\u56f4\u795e\u7ecf\u529f\u80fd\u969c\u788d\u3002.<\/strong> \u4e86\u89e3\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5916\u663e\u5b50\u7f3a\u5931\u548c\u4e9a\u578b\u4e22\u5931\u7684\u5f71\u54cd\u5bf9\u4e8e\u7cbe\u51c6\u533b\u7597\u3001\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027\u4ee5\u53ca\u9776\u5411\u6cbb\u7597\u7684\u5f00\u53d1\u81f3\u5173\u91cd\u8981\u3002.<\/p>\n\n\n\n<div class=\"wp-block-rank-math-toc-block\" id=\"rank-math-toc\"><h2>\u76ee\u5f55<\/h2><nav><ul><li><a href=\"#understanding-duchenne-muscular-dystrophy-at-the-molecular-level\">\u4ece\u5206\u5b50\u6c34\u5e73\u4e86\u89e3\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7<\/a><ul><\/ul><\/li><li><a href=\"#dystrophin-isoforms-a-complex-expression-system\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\uff1a\u4e00\u4e2a\u590d\u6742\u7684\u8868\u8fbe\u7cfb\u7edf<\/a><ul><li><a href=\"#major-dystrophin-isoforms\">\u4e3b\u8981\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b<\/a><\/li><\/ul><\/li><li><a href=\"#dp-427-isoform-the-core-structural-protein\">DP427\u4e9a\u578b\uff1a\u6838\u5fc3\u7ed3\u6784\u86cb\u767d<\/a><ul><\/ul><\/li><li><a href=\"#dp-260-isoform-retinal-function-and-visual-implications\">DP260\u4e9a\u578b\uff1a\u89c6\u7f51\u819c\u529f\u80fd\u548c\u89c6\u89c9\u5f71\u54cd<\/a><ul><\/ul><\/li><li><a href=\"#dp-140-isoform-cognitive-and-neurodevelopmental-impact\">DP140 \u540c\u5de5\u578b\uff1a\u8ba4\u77e5\u548c\u795e\u7ecf\u53d1\u80b2\u5f71\u54cd<\/a><ul><\/ul><\/li><li><a href=\"#dp-116-isoform-peripheral-nervous-system-involvement\">DP116\u4e9a\u578b\uff1a\u5468\u56f4\u795e\u7ecf\u7cfb\u7edf\u53d7\u7d2f<\/a><ul><\/ul><\/li><li><a href=\"#dp-71-isoform-ubiquitous-and-critical\">DP71\u4e9a\u578b\uff1a\u666e\u904d\u5b58\u5728\u4e14\u81f3\u5173\u91cd\u8981<\/a><ul><\/ul><\/li><li><a href=\"#dp-40-isoform-emerging-insights\">DP40 \u540c\u5de5\u578b\uff1a\u6700\u65b0\u89c1\u89e3<\/a><ul><\/ul><\/li><li><a href=\"#how-exon-deletions-affect-isoform-expression\">\u5916\u663e\u5b50\u7f3a\u5931\u5982\u4f55\u5f71\u54cd\u5f02\u6784\u4f53\u8868\u8fbe<\/a><ul><li><a href=\"#sample-1-deletion-of-exons-8-and-30\">\u6837\u672c 1\uff1a\u5916\u663e\u5b50 8 \u548c 30 \u7684\u7f3a\u5931<\/a><\/li><li><a href=\"#sample-2-deletion-of-exons-42-and-43\">\u6837\u672c 2\uff1a\u5916\u663e\u5b50 42 \u548c 43 \u7684\u7f3a\u5931<\/a><\/li><li><a href=\"#sample-3-deletion-of-exons-45-and-55\">\u6837\u672c 3\uff1a\u5916\u663e\u5b50 45 \u548c 54 \u7684\u7f3a\u5931<\/a><\/li><li><a href=\"#sample-4-deletion-of-exons-64-and-65\">\u6837\u672c 4\uff1a\u5916\u663e\u5b50 64 \u548c 65 \u7684\u7f3a\u5931<\/a><\/li><\/ul><\/li><li><a href=\"#genotype-phenotype-correlation-in-dmd\">DMD\u7684\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027<\/a><ul><\/ul><\/li><li><a href=\"#implications-for-diagnosis-and-genetic-counseling\">\u5bf9\u8bca\u65ad\u548c\u9057\u4f20\u54a8\u8be2\u7684\u5f71\u54cd<\/a><\/li><li><a href=\"#cognitive-and-behavioral-management-in-dmd\">DMD\u7684\u8ba4\u77e5\u548c\u884c\u4e3a\u7ba1\u7406<\/a><\/li><li><a href=\"#conclusion\">\u7ed3\u8bba<\/a><\/li><li><a href=\"#references-citations\">\u5b66\u672f\u8d44\u6e90\u548c\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"understanding-duchenne-muscular-dystrophy-at-the-molecular-level\"><strong>\u4ece\u5206\u5b50\u6c34\u5e73\u4e86\u89e3\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u662f\u7531DMD\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u7684\uff0cDMD\u57fa\u56e0\u662f\u4eba\u7c7b\u57fa\u56e0\u7ec4\u4e2d\u6700\u5927\u7684\u57fa\u56e0\u4e4b\u4e00\uff0c\u5305\u542b79\u4e2a\u5916\u663e\u5b50\u3002\u5927\u591a\u6570\u7a81\u53d8\u662f\u5916\u663e\u5b50\u7f3a\u5931\uff0c\u8fd9\u4f1a\u7834\u574f\u9605\u8bfb\u6846\uff0c\u963b\u6b62\u529f\u80fd\u6027\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u4ea7\u751f\u3002\u4e86\u89e3\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/dystrophin-gene\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD\u57fa\u56e0<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"435\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-1024x435.jpg\" alt=\"dmd \u57fa\u56e0\u5916\u663e\u5b50\u6570\u76ee\" class=\"wp-image-1439\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-1024x435.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-300x128.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-768x326.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-1536x653.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-18x8.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons.jpg 2000w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u8d77\u5230\u7ed3\u6784\u951a\u7684\u4f5c\u7528\uff0c\u5c06\u808c\u8089\u7ec6\u80de\u7684\u7ec6\u80de\u9aa8\u67b6\u4e0e\u7ec6\u80de\u5916\u57fa\u8d28\u8fde\u63a5\u8d77\u6765\u3002\u5982\u679c\u6ca1\u6709\u5b83\uff0c\u808c\u8089\u7ea4\u7ef4\u5c31\u4f1a\u53d8\u5f97\u8106\u5f31\uff0c\u5bfc\u81f4\u8fdb\u884c\u6027\u9000\u5316\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"why-exon-deletions-matter\"><strong>\u5916\u663e\u5b50\u7f3a\u5931\u4e3a\u4f55\u91cd\u8981<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u7f3a\u5931\u7684\u5f71\u54cd\u5e76\u4e0d\u4e00\u81f4\u3002\u4e34\u5e8a\u4e25\u91cd\u7a0b\u5ea6\u53d6\u51b3\u4e8e\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7f3a\u5931\u662f\u5426\u7834\u574f\u4e86\u9605\u8bfb\u6846\uff08\u79fb\u7801\u7a81\u53d8\uff09<\/li>\n\n\n\n<li>\u54ea\u4e9b\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\u53d7\u5230\u5f71\u54cd<\/li>\n\n\n\n<li>\u57fa\u56e0\u5185\u7a81\u53d8\u7684\u4f4d\u7f6e<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u5916\u663e\u5b50\u7f3a\u5931\u548c\u4e9a\u578b\u7f3a\u9677\u7684\u5f71\u54cd\u5728\u6b64\u5c24\u4e3a\u663e\u8457\u3002\u4e86\u89e3\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/what-is-exon-deletion-in-duchenne-muscular-dystrophy-dmd\/\" data-type=\"post\" data-id=\"3004\">\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u7f3a\u5931\uff1f<\/a><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"dystrophin-isoforms-a-complex-expression-system\"><strong>\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\uff1a\u4e00\u4e2a\u590d\u6742\u7684\u8868\u8fbe\u7cfb\u7edf<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u901a\u8fc7\u4e0d\u540c\u7684\u542f\u52a8\u5b50\u4ea7\u751f\u591a\u79cd\u4e9a\u578b\u3002\u6bcf\u79cd\u4e9a\u578b\u90fd\u5177\u6709\u7ec4\u7ec7\u7279\u5f02\u6027\u8868\u8fbe\u548c\u72ec\u7279\u7684\u529f\u80fd\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"major-dystrophin-isoforms\"><strong>\u4e3b\u8981\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b<\/strong><\/h3>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u540c\u5de5\u578b<\/th><th>\u5927\u7ea6\u5c3a\u5bf8<\/th><th>\u8868\u8fbe\u4f4d\u70b9<\/th><\/tr><\/thead><tbody><tr><td>Dp427\uff08\u808c\u8089\u3001\u5927\u8111\u3001\u6d66\u80af\u91ce\u7ec6\u80de\uff09<\/td><td>427 kDa<\/td><td>\u9aa8\u9abc\u808c\uff0c\u5927\u8111<\/td><\/tr><tr><td>DP260<\/td><td>260 kDa<\/td><td>\u89c6\u7f51\u819c<\/td><\/tr><tr><td>DP140<\/td><td>140 kDa<\/td><td>\u8111\u3001\u80be\u810f<\/td><\/tr><tr><td>DP116<\/td><td>116 kDa<\/td><td>\u5468\u56f4\u795e\u7ecf<\/td><\/tr><tr><td>DP71<\/td><td>71 kDa<\/td><td>\u5927\u8111\uff0c\u7531\u591a\u79cd\u7ec4\u7ec7\u6784\u6210<\/td><\/tr><tr><td>DP40<\/td><td>40 kDa<\/td><td>\u5927\u8111\uff08\u7a81\u89e6\u533a\u57df\uff09<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u6bcf\u79cd\u4e9a\u578b\u90fd\u5bf9\u4e0d\u540c\u7684\u751f\u7406\u7cfb\u7edf\u6709\u8d21\u732e\uff0c\u8fd9\u5c31\u89e3\u91ca\u4e86\u4e3a\u4ec0\u4e48 DMD \u4e0d\u4ec5\u4ec5\u662f\u4e00\u79cd\u808c\u8089\u75be\u75c5\u3002.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"589\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms-1024x589.jpg\" alt=\"\u5916\u663e\u5b50\u7f3a\u5931\u548c\u4e9a\u578b\u7f3a\u9677\u5bf9\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u7684\u5f71\u54cd\" class=\"wp-image-7492\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms-1024x589.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms-300x173.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms-768x442.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms-18x10.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms-730x420.jpg 730w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms-150x86.jpg 150w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms-696x401.jpg 696w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms-1068x615.jpg 1068w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2026\/04\/DMD-Isoforms.jpg 1536w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u7acb\u5373\u5c1d\u8bd5\uff1a <strong><a href=\"https:\/\/dmdwarrior.com\/zh\/duchenne-exon-deletion-tool\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD \u8fd8\u662f BMD\uff1f\u5916\u663e\u5b50\u68c0\u67e5\u5de5\u5177<\/a><\/strong><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"dp-427-isoform-the-core-structural-protein\"><strong>DP427\u4e9a\u578b\uff1a\u6838\u5fc3\u7ed3\u6784\u86cb\u767d<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"function-of-dp-427\"><strong>Dp427\u7684\u529f\u80fd<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Dp427 \u662f\u5168\u957f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff0c\u5bf9\u4ee5\u4e0b\u65b9\u9762\u81f3\u5173\u91cd\u8981\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u808c\u819c\u7a33\u5b9a\u6027<\/li>\n\n\n\n<li>\u9632\u6b62\u6536\u7f29\u5f15\u8d77\u7684\u635f\u4f24<\/li>\n\n\n\n<li>\u808c\u8089\u7ec6\u80de\u5185\u7684\u4fe1\u53f7\u8f6c\u5bfc<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"impact-of-dp-427-deficiency\"><strong>DP427 \u7f3a\u4e4f\u7684\u5f71\u54cd<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Dp427 \u7684\u7f3a\u5931\u4f1a\u5bfc\u81f4\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8fdb\u884c\u6027\u808c\u65e0\u529b<\/li>\n\n\n\n<li><a href=\"https:\/\/dmdwarrior.com\/zh\/what-is-creatine-kinase-ck\/\" target=\"_blank\" data-type=\"post\" data-id=\"2167\" rel=\"noreferrer noopener\">\u808c\u9178\u6fc0\u9176\u6c34\u5e73\u5347\u9ad8<\/a><\/li>\n\n\n\n<li>\u808c\u8089\u7ec4\u7ec7\u88ab\u8102\u80aa\u548c\u7ea4\u7ef4\u5316\u7ec4\u7ec7\u53d6\u4ee3<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u8fd9\u662f\u5bfc\u81f4\u7ecf\u5178DMD\u8868\u578b\u7684\u4e3b\u8981\u56e0\u7d20\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"clinical-relevance\"><strong>\u4e34\u5e8a\u76f8\u5173\u6027<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u6240\u6709\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u60a3\u8005\u5747\u7f3a\u4e4f\u529f\u80fd\u6027Dp427\u3002\u7136\u800c\uff0c\u5176\u4ed6\u540c\u5de5\u578b\u7f3a\u9677\u4f1a\u5f71\u54cd\u75be\u75c5\u7684\u4e25\u91cd\u7a0b\u5ea6\u3002.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"dp-260-isoform-retinal-function-and-visual-implications\"><strong>DP260\u4e9a\u578b\uff1a\u89c6\u7f51\u819c\u529f\u80fd\u548c\u89c6\u89c9\u5f71\u54cd<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"role-of-dp-260\"><strong>DP260\u7684\u4f5c\u7528<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Dp260\u4e3b\u8981\u5728\u89c6\u7f51\u819c\u4e2d\u8868\u8fbe\uff0c\u5c24\u5176\u662f\u5728\u611f\u5149\u7ec6\u80de\u4e2d\u3002\u5b83\u53d1\u6325\u4ee5\u4e0b\u4f5c\u7528\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7a81\u89e6\u4f20\u9012<\/li>\n\n\n\n<li>\u89c6\u89c9\u4fe1\u53f7\u5904\u7406<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"effects-of-dp-260-deficiency\"><strong>Dp260 \u7f3a\u4e4f\u75c7\u7684\u5f71\u54cd<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u7f3a\u4e4f Dp260 \u7684\u60a3\u8005\u53ef\u80fd\u4f1a\u51fa\u73b0\u4ee5\u4e0b\u75c7\u72b6\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5f02\u5e38\u89c6\u7f51\u819c\u7535\u56fe\uff08ERG\uff09<\/li>\n\n\n\n<li>\u4e9a\u4e34\u5e8a\u89c6\u89c9\u529f\u80fd\u969c\u788d<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u867d\u7136\u65e5\u5e38\u751f\u6d3b\u4e2d\u89c6\u529b\u901a\u5e38\u4e0d\u4f1a\u53d7\u5230\u5f71\u54cd\uff0c\u4f46\u53ef\u6d4b\u91cf\u7684\u89c6\u7f51\u819c\u5f02\u5e38\u5374\u5f88\u5e38\u89c1\u3002.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"dp-140-isoform-cognitive-and-neurodevelopmental-impact\"><strong>DP140 \u540c\u5de5\u578b\uff1a\u8ba4\u77e5\u548c\u795e\u7ecf\u53d1\u80b2\u5f71\u54cd<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"expression-and-function\"><strong>\u8868\u8fbe\u5f0f\u548c\u51fd\u6570<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Dp140 \u7684\u8868\u8fbe\u5f62\u5f0f\u4e3a\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53d1\u80b2\u4e2d\u7684\u5927\u8111<\/li>\n\n\n\n<li>\u80be<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u5b83\u5bf9\u4ee5\u4e0b\u65b9\u9762\u81f3\u5173\u91cd\u8981\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u795e\u7ecf\u53d1\u80b2<\/li>\n\n\n\n<li>\u8ba4\u77e5\u529f\u80fd<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"consequences-of-dp-140-deficiency\"><strong>Dp140 \u7f3a\u4e4f\u75c7\u7684\u540e\u679c<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u5916\u663e\u5b50\u7f3a\u5931\u548c\u5f02\u6784\u4f53\u7f3a\u9677\u7684\u5f71\u54cd\u4e2d\uff0c\u6700\u91cd\u8981\u7684\u65b9\u9762\u4e4b\u4e00\u662f\u8ba4\u77e5\u969c\u788d\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DP140 \u7f3a\u9677\u4e0e\u4ee5\u4e0b\u60c5\u51b5\u5bc6\u5207\u76f8\u5173\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u667a\u529b\u969c\u788d<\/li>\n\n\n\n<li><a href=\"https:\/\/dmdwarrior.com\/zh\/learning-disabilities-in-duchenne-muscular-dystrophy\/\" target=\"_blank\" data-type=\"post\" data-id=\"7125\" rel=\"noreferrer noopener\">\u5b66\u4e60\u56f0\u96be<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/dmdwarrior.com\/zh\/autism-spectrum-disorders-in-duchenne-muscular-dystrophy\/\" target=\"_blank\" data-type=\"post\" data-id=\"6776\" rel=\"noreferrer noopener\">\u81ea\u95ed\u75c7\u8c31\u7cfb\u7279\u5f81<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/dmdwarrior.com\/zh\/tag\/adhd\/\" data-type=\"post_tag\" data-id=\"599\">\u7c7b\u4f3c\u591a\u52a8\u75c7\u7684\u75c7\u72b6<\/a><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"genotype-phenotype-correlation\"><strong>\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5f71\u54cd\u7b2c44\u53f7\u5916\u663e\u5b50\u4e0b\u6e38\u533a\u57df\u7684\u5916\u663e\u5b50\u7f3a\u5931\u901a\u5e38\u4f1a\u7834\u574fDp140\u7684\u8868\u8fbe\u3002\u7814\u7a76\u8868\u660e\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7f3a\u4e4fDp140\u7684\u60a3\u8005\u667a\u5546\u5f97\u5206\u663e\u8457\u964d\u4f4e\u3002<\/li>\n\n\n\n<li>\u795e\u7ecf\u884c\u4e3a\u969c\u788d\u98ce\u9669\u589e\u52a0<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"dp-116-isoform-peripheral-nervous-system-involvement\"><strong>DP116\u4e9a\u578b\uff1a\u5468\u56f4\u795e\u7ecf\u7cfb\u7edf\u53d7\u7d2f<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"function-of-dp-116\"><strong>Dp116\u7684\u529f\u80fd<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Dp116\u5728\u5468\u56f4\u795e\u7ecf\u7684\u96ea\u65fa\u7ec6\u80de\u4e2d\u8868\u8fbe\uff0c\u5e76\u53c2\u4e0e\u4ee5\u4e0b\u8fc7\u7a0b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad3\u9798\u7a33\u5b9a\u6027<\/li>\n\n\n\n<li>\u795e\u7ecf\u4f20\u5bfc<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"impact-of-deficiency\"><strong>\u7f3a\u9677\u7684\u5f71\u54cd<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5c3d\u7ba1\u7814\u7a76\u8f83\u5c11\uff0c\u4f46Dp116\u7f3a\u9677\u53ef\u80fd\u5bfc\u81f4\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8f7b\u5ea6\u5468\u56f4\u795e\u7ecf\u75c5\u53d8<\/li>\n\n\n\n<li>\u795e\u7ecf\u4f20\u5bfc\u901f\u5ea6\u6539\u53d8<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u8fd9\u4e00\u65b9\u9762\u5e38\u5e38\u88ab\u6f0f\u8bca\uff0c\u4f46\u5374\u4f1a\u52a0\u91cd\u6574\u4f53\u75be\u75c5\u8d1f\u62c5\u3002.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"dp-71-isoform-ubiquitous-and-critical\"><strong>DP71\u4e9a\u578b\uff1a\u666e\u904d\u5b58\u5728\u4e14\u81f3\u5173\u91cd\u8981<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"role-of-dp-71\"><strong>DP-71\u7684\u4f5c\u7528<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Dp71 \u662f\u6700\u4e30\u5bcc\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\uff0c\u5e76\u5728\u4ee5\u4e0b\u7ec4\u7ec7\u4e2d\u8868\u8fbe\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8111<\/li>\n\n\n\n<li>\u5185\u76ae\u7ec6\u80de<\/li>\n\n\n\n<li>\u4e0a\u76ae\u7ec4\u7ec7<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u5b83\u5728\u4ee5\u4e0b\u65b9\u9762\u53d1\u6325\u4f5c\u7528\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7ec6\u80de\u4fe1\u53f7\u4f20\u5bfc<\/li>\n\n\n\n<li>\u8840\u8111\u5c4f\u969c\u5b8c\u6574\u6027<\/li>\n\n\n\n<li>\u7a81\u89e6\u7ec4\u7ec7<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"effects-of-dp-71-deficiency\"><strong>Dp71 \u7f3a\u9677\u7684\u5f71\u54cd<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Dp71 \u7f3a\u5931\u4e0e\u4ee5\u4e0b\u60c5\u51b5\u76f8\u5173\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e25\u91cd\u8ba4\u77e5\u969c\u788d<\/li>\n\n\n\n<li>\u7cbe\u795e\u75c7\u72b6<\/li>\n\n\n\n<li>\u795e\u7ecf\u5143\u7ed3\u6784\u7d0a\u4e71<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u540c\u65f6\u7f3a\u4e4f Dp140 \u548c Dp71 \u7684\u60a3\u8005\u8868\u73b0\u51fa\u6700\u4e25\u91cd\u7684\u795e\u7ecf\u8ba4\u77e5\u8868\u578b\u3002.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"dp-40-isoform-emerging-insights\"><strong>DP40 \u540c\u5de5\u578b\uff1a\u6700\u65b0\u89c1\u89e3<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"what-is-dp-40\"><strong>\u4ec0\u4e48\u662fDp40\uff1f<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Dp40 \u662f Dp71 \u884d\u751f\u7684\u8f83\u77ed\u4e9a\u578b\uff0c\u4e3b\u8981\u5b58\u5728\u4e8e\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5927\u8111\u7684\u7a81\u89e6\u533a\u57df<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"potential-role\"><strong>\u6f5c\u5728\u89d2\u8272<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5c3d\u7ba1\u4ecd\u5728\u8c03\u67e5\u4e2d\uff0c\u4f46Dp40\u53ef\u80fd\u4e0e\u4ee5\u4e0b\u4e8b\u4ef6\u6709\u5173\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7a81\u89e6\u5c0f\u6ce1\u8c03\u63a7<\/li>\n\n\n\n<li>\u795e\u7ecf\u9012\u8d28\u91ca\u653e<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"clinical-implications\"><strong>\u4e34\u5e8a\u610f\u4e49<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Dp40\u7f3a\u4e4f\u53ef\u80fd\u52a0\u5267\u4ee5\u4e0b\u60c5\u51b5\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8ba4\u77e5\u529f\u80fd\u969c\u788d<\/li>\n\n\n\n<li>\u7a81\u89e6\u5f02\u5e38<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"how-exon-deletions-affect-isoform-expression\"><strong>\u5916\u663e\u5b50\u7f3a\u5931\u5982\u4f55\u5f71\u54cd\u5f02\u6784\u4f53\u8868\u8fbe<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u5305\u542b\u591a\u4e2a\u542f\u52a8\u5b50\uff0c\u8fd9\u4e9b\u542f\u52a8\u5b50\u4f4d\u4e8e\u4e0d\u540c\u7684\u5916\u663e\u5b50\u4e0a\u3002\u56e0\u6b64\uff0c\u5916\u663e\u5b50\u7f3a\u5931\u53ef\u4ee5\u9009\u62e9\u6027\u5730\u7834\u574f\u7279\u5b9a\u7684\u4e9a\u578b\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"sample-1-deletion-of-exons-8-and-30\"><strong>\u6837\u672c 1\uff1a\u5916\u663e\u5b50 8 \u548c 30 \u7684\u7f3a\u5931<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u4ece\u5916\u663e\u5b50 8 \u5230\u5916\u663e\u5b50 30 \u7684\u5927\u8303\u56f4\u7f3a\u5931\u662f\u4e00\u79cd\u201c\u79fb\u7801\u201d\u7a81\u53d8\u3002.<\/strong> \u56e0\u4e3a\u5b83\u53bb\u9664\u4e86\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u7684\u5927\u90e8\u5206\uff0c\u6240\u4ee5\u5b83\u4e3b\u8981\u5f71\u54cd\u5168\u957f\u86cb\u767d\uff08Dp427\uff09\uff0c\u5e76\u6807\u5fd7\u7740\u89c6\u7f51\u819c\u540c\u5de5\u578b\uff08Dp260\uff09\u7684\u5f00\u59cb\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>1.\u53d7\u5f71\u54cd\u7684\u540c\u5de5\u578b\u4e0e\u4fdd\u7559\u7684\u540c\u5de5\u578b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DP427\uff08\u808c\u8089\/\u5927\u8111\uff09\uff1a<\/strong>&nbsp;<strong>\u7f3a\u5e2d\u7684\u3002.<\/strong>&nbsp;\u8fd9\u662f\u808c\u8089\u7ea4\u7ef4\u5fc5\u9700\u7684\u5168\u957f\u86cb\u767d\u8d28\u3002\u7f3a\u4e4f\u8fd9\u79cd\u86cb\u767d\u8d28\u4f1a\u5bfc\u81f4\u5178\u578b\u7684\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u8868\u578b\u3002.<\/li>\n\n\n\n<li><strong>Dp260\uff08\u89c6\u7f51\u819c\uff09\uff1a<\/strong>\u00a0<strong>\u4e25\u91cd\u53d7\u5f71\u54cd\/\u7f3a\u5e2d\u3002.<\/strong>\u00a0\u7531\u4e8eDp260\u901a\u5e38\u8d77\u59cb\u4e8e\u4f4d\u4e8e\u5916\u663e\u5b5030\u9644\u8fd1\u7684\u542f\u52a8\u5b50\uff0c\u56e0\u6b64\u8be5\u7f3a\u5931\u4f1a\u79fb\u9664\u5176\u8d77\u59cb\u70b9\u3002\u89c6\u7f51\u819c\u4fe1\u53f7\u4f20\u5bfc\u901a\u5e38\u4f1a\u53d7\u5230\u5e72\u6270\u3002.<\/li>\n\n\n\n<li><strong>DP140\uff08\u8111\/\u80be\uff09\uff1a<\/strong>\u00a0<strong>\u5df2\u4fdd\u5b58\u3002.<\/strong>\u00a0Dp140 \u8d77\u59cb\u8f83\u665a\uff0c\u4f4d\u4e8e\u5916\u663e\u5b50 44\u3002\u7531\u4e8e\u7f3a\u5931 (8-30) \u7ed3\u675f\u4e8e\u5916\u663e\u5b50 44 \u4e4b\u524d\uff0c\u56e0\u6b64\u8fd9\u79cd\u5173\u952e\u7684\u8111\u86cb\u767d\u5f97\u4ee5\u6b63\u5e38\u4ea7\u751f\u3002.<\/li>\n\n\n\n<li><strong>DP71\uff08\u901a\u7528\/\u5927\u8111\uff09\uff1a<\/strong>\u00a0<strong>\u5df2\u4fdd\u5b58\u3002.<\/strong>\u00a0Dp71 \u4ece\u5916\u663e\u5b50 63 \u5f00\u59cb\uff0c\u5b8c\u5168\u4e0d\u53d7\u5f71\u54cd\u3002.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>2. \u5bf9\u513f\u7ae5\u53ca\u667a\u5546\u6c34\u5e73\u7684\u5f71\u54cd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ba4\u77e5\u7279\u5f81\uff1a<\/strong>\u00a0\u57fa\u56e0\u65e9\u671f\uff08\u5916\u663e\u5b501-30\uff09\u7684\u7a81\u53d8\u901a\u5e38\u6bd4\u57fa\u56e0\u672b\u7aef\u7684\u7a81\u53d8\u5e26\u6765\u66f4\u597d\u7684\u8ba4\u77e5\u7ed3\u679c\u3002\u7531\u4e8eDp140\u548cDp71\uff08\u6700\u91cd\u8981\u7684\u8111\u90e8\u4e9a\u578b\uff09\u5747\u5f97\u4ee5\u4fdd\u7559\uff0c\u56e0\u6b64\u5927\u8111\u53d1\u80b2\u7684\u751f\u7269\u5b66\u57fa\u7840\u57fa\u672c\u5b8c\u597d\u65e0\u635f\u3002.<\/li>\n\n\n\n<li><strong>\u4f30\u8ba1\u667a\u5546\uff1a<\/strong>\u00a0\u643a\u5e268-30\u53f7\u5916\u663e\u5b50\u7f3a\u5931\u7684\u513f\u7ae5\u901a\u5e38\u667a\u5546\u572885-90\u4e4b\u95f4\uff08\u5c5e\u4e8e\u4e2d\u4f4e\u6c34\u5e73\u81f3\u6b63\u5e38\u6c34\u5e73\uff09\u3002\u867d\u7136\u4ecd\u53ef\u80fd\u51fa\u73b0\u4e00\u4e9b\u5b66\u4e60\u6216\u884c\u4e3a\u95ee\u9898\uff08\u4f8b\u5982\u6ce8\u610f\u529b\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff09\uff0c\u4f46\u4e25\u91cd\u7684\u667a\u529b\u969c\u788d\u5728\u8be5\u7279\u5b9a\u7a81\u53d8\u7fa4\u4f53\u4e2d\u8f83\u4e3a\u7f55\u89c1\u3002.<\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u51b2\u51fb\uff1a<\/strong>&nbsp;\u7531\u4e8e\u7f3a\u5931\u7684\u7247\u6bb5\u975e\u5e38\u5927\uff0822 \u4e2a\u5916\u663e\u5b50\u88ab\u79fb\u9664\uff09\uff0c\u56e0\u6b64\u8eab\u4f53\u75c7\u72b6\uff08\u808c\u8089\u65e0\u529b\uff09\u901a\u5e38\u662f\u5178\u578b\u7684\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 (DMD)\uff0c\u9700\u8981\u65e9\u671f\u8fdb\u884c\u7269\u7406\u6cbb\u7597\u548c\u836f\u7269\u6cbb\u7597\u3002.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u5bf9\u4e8e\u60a3\u6709\u5916\u663e\u5b508-30\u7f3a\u5931\u7684\u513f\u7ae5\u6765\u8bf4\uff0c\u4e3b\u8981\u7684\u4e34\u5e8a\u6311\u6218\u662f\u884c\u52a8\u80fd\u529b\u3002\u4ece\u8ba4\u77e5\u89d2\u5ea6\u6765\u770b\uff0c\u4e0e\u60a3\u6709\u8fdc\u7aef\u7a81\u53d8\u7684\u513f\u7ae5\u76f8\u6bd4\uff0c\u8fd9\u7c7b\u513f\u7ae5\u5177\u6709\u66f4\u9ad8\u7684\u6b63\u5e38\u5b66\u4e1a\u5b66\u4e60\u6f5c\u529b\u3002.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"sample-2-deletion-of-exons-42-and-43\"><strong>\u6837\u672c 2\uff1a\u5916\u663e\u5b50 42 \u548c 43 \u7684\u7f3a\u5931<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b5042\u548c43\u7684\u7f3a\u5931\u662f\u4e00\u79cd\u201c\u79fb\u7801\u201d\u7a81\u53d8\uff0c\u4e3b\u8981\u5bfc\u81f4\u5168\u957f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff08Dp427\uff09\u7684\u7f3a\u5931\uff0c\u4ece\u800c\u5f15\u8d77\u5178\u578b\u7684\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u8868\u578b\u3002\u7136\u800c\uff0c\u7531\u4e8e\u8fd9\u79cd\u7a81\u53d8\u53d1\u751f\u5728\u57fa\u56e0\u4e2d\u90e8\uff0c\u4e00\u4e9b\u5173\u952e\u7684\u8111\u76f8\u5173\u4e9a\u578b\u5f97\u4ee5\u4fdd\u7559\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>1.\u53d7\u5f71\u54cd\u7684\u540c\u5de5\u578b\u4e0e\u4fdd\u7559\u7684\u540c\u5de5\u578b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DP427\uff08\u808c\u8089\/\u5927\u8111\uff09\uff1a<\/strong>&nbsp;<strong>\u7f3a\u5e2d\u7684\u3002.<\/strong>&nbsp;\u8fd9\u662f\u7ef4\u6301\u808c\u8089\u7a33\u5b9a\u6240\u9700\u7684\u5168\u957f\u86cb\u767d\u8d28\uff08\u5916\u663e\u5b50 1-79\uff09\u3002.<\/li>\n\n\n\n<li><strong>Dp260\uff08\u89c6\u7f51\u819c\uff09\uff1a<\/strong>&nbsp;<strong>\u4e2d\u65ad\/\u53d7\u5f71\u54cd\u3002.<\/strong>&nbsp;\u7531\u4e8e Dp260 \u4ece\u5916\u663e\u5b50 30 \u5f00\u59cb\uff0c\u5176\u5e8f\u5217\u4e2d 42-43 \u5904\u53d1\u751f\u7f3a\u5931\uff0c\u53ef\u80fd\u4f1a\u5f71\u54cd\u89c6\u7f51\u819c\u4fe1\u53f7\u4f20\u5bfc\uff08\u53ef\u901a\u8fc7 ERG \u6d4b\u91cf\uff09\u3002.<\/li>\n\n\n\n<li><strong>DP140\uff08\u8111\/\u80be\uff09\uff1a<\/strong>&nbsp;<strong>\u5df2\u4fdd\u5b58\u3002.<\/strong>&nbsp;Dp140 \u4ece\u5916\u663e\u5b50 44 \u5f00\u59cb\u3002\u7531\u4e8e\u7f3a\u5931\uff0842-43\uff09\u5728\u5916\u663e\u5b50 44 \u4e4b\u524d\u7ed3\u675f\uff0c\u56e0\u6b64\u8fd9\u79cd\u5bf9\u5927\u8111\u81f3\u5173\u91cd\u8981\u7684\u86cb\u767d\u8d28\u901a\u5e38\u4f1a\u6b63\u5e38\u4ea7\u751f\u3002.<\/li>\n\n\n\n<li><strong>DP71\uff08\u901a\u7528\/\u5927\u8111\uff09\uff1a<\/strong>&nbsp;<strong>\u5df2\u4fdd\u5b58\u3002.<\/strong>&nbsp;Dp71 \u8d77\u59cb\u4f4d\u7f6e\u8f83\u665a\uff0c\u4f4d\u4e8e\u5916\u663e\u5b50 63\u300242-43 \u7f3a\u5931\u4e0d\u4f1a\u5f71\u54cd\u5b83\u3002.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>2. \u5bf9\u513f\u7ae5\u53ca\u667a\u5546\u6c34\u5e73\u7684\u5f71\u54cd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ba4\u77e5\u7279\u5f81\uff1a<\/strong>\u00a0\u7531\u4e8e\u6700\u5173\u952e\u7684\u5927\u8111\u5f02\u6784\u4f53\uff08Dp140 \u548c Dp71\uff09\u5f97\u4ee5\u4fdd\u7559\uff0c\u56e0\u6b64\u4e0e\u540e\u6765\u53d1\u751f\u7a81\u53d8\uff08\u5982\u5916\u663e\u5b50 64-65\uff09\u7684\u513f\u7ae5\u76f8\u6bd4\uff0c\u5916\u663e\u5b50 42-43 \u7f3a\u5931\u7684\u513f\u7ae5\u60a3\u4e25\u91cd\u667a\u529b\u969c\u788d\u7684\u98ce\u9669\u901a\u5e38\u8f83\u4f4e\u3002.<\/li>\n\n\n\n<li><strong>\u4f30\u8ba1\u667a\u5546\uff1a<\/strong>\u00a0\u8be5\u7fa4\u4f53\u7684\u5e73\u5747\u667a\u5546\u901a\u5e38\u5728 80-85 \u4e4b\u95f4\uff08\u4e2d\u4f4e\u6c34\u5e73\u5230\u4e34\u754c\u6c34\u5e73\uff09\u3002\u867d\u7136\u8fd9\u7565\u4f4e\u4e8e\u666e\u901a\u4eba\u7fa4\u7684\u5e73\u5747\u667a\u5546\uff08100\uff09\uff0c\u4f46\u663e\u8457\u9ad8\u4e8e Dp71 \u7f3a\u9677\u4eba\u7fa4\u3002.<\/li>\n\n\n\n<li><strong>\u5177\u4f53\u6311\u6218\uff1a<\/strong>&nbsp;\u5373\u4f7f\u667a\u5546\u63a5\u8fd1\u6b63\u5e38\uff0c\u8fd9\u4e9b\u5b69\u5b50\u4ecd\u7136\u53ef\u80fd\u51fa\u73b0\u201c\u4e0e DMD \u76f8\u5173\u7684\u5b66\u4e60\u969c\u788d\u201d\uff0c\u4f8b\u5982\u77ed\u671f\u8bb0\u5fc6\u56f0\u96be\u3001\u8bed\u97f3\u5904\u7406\uff08\u9605\u8bfb\uff09\u56f0\u96be\u6216\u591a\u52a8\u75c7\u75c7\u72b6\u3002.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u5bf9\u4e8e\u60a3\u6709\u5916\u663e\u5b50 42-43 \u7f3a\u5931\u7684\u513f\u7ae5\uff0c\u4e34\u5e8a\u91cd\u70b9\u4e3b\u8981\u5728\u4e8e\u8eab\u4f53\/\u8fd0\u52a8\u7ba1\u7406\uff0c\u56e0\u4e3a\u4e0e\u8fdc\u7aef\u7a81\u53d8\u76f8\u6bd4\uff0c\u5176\u8ba4\u77e5\u53d1\u80b2\u7684\u751f\u7269\u5b66\u57fa\u7840\u57fa\u672c\u5b8c\u597d\u65e0\u635f\u3002.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"sample-3-deletion-of-exons-45-and-55\"><strong>\u6837\u672c 3\uff1a\u5916\u663e\u5b50 45 \u548c 54 \u7684\u7f3a\u5931<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u4ece\u5916\u663e\u5b5045\u5230\u5916\u663e\u5b5054\u7684\u7f3a\u5931\u662fDMD\u4e2d\u5e38\u89c1\u7684\u7a81\u53d8\u3002\u8fd9\u4e00\u7279\u5b9a\u8303\u56f4\u610f\u4e49\u91cd\u5927\uff0c\u56e0\u4e3a\u5b83\u5b8c\u5168\u5220\u9664\u4e86\u4e0e\u5927\u8111\u76f8\u5173\u7684\u5f02\u6784\u4f53Dp140\u7684\u8d77\u59cb\u70b9\u548c\u5927\u90e8\u5206\u5e8f\u5217\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>1.\u53d7\u5f71\u54cd\u7684\u540c\u5de5\u578b\u4e0e\u4fdd\u7559\u7684\u540c\u5de5\u578b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DP427\uff08\u808c\u8089\/\u5927\u8111\uff09\uff1a<\/strong>&nbsp;<strong>\u7f3a\u5e2d\u7684\u3002.<\/strong>&nbsp;\u7531\u4e8e\u65e0\u6cd5\u4ea7\u751f\u5168\u957f\u86cb\u767d\u8d28\uff0c\u5bfc\u81f4\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 (DMD) \u8868\u578b\u3002.<\/li>\n\n\n\n<li><strong>Dp260\uff08\u89c6\u7f51\u819c\uff09\uff1a<\/strong>\u00a0<strong>\u7f3a\u5e2d\/\u4e2d\u65ad\u3002.<\/strong>\u00a0\u7531\u4e8e Dp260 \u4ece\u5916\u663e\u5b50 30 \u5f00\u59cb\uff0c\u4e00\u76f4\u5230\u5916\u663e\u5b50 79\uff0c\u56e0\u6b64\u8be5\u7f3a\u5931\uff0845-54\uff09\u53d1\u751f\u5728\u5176\u5e8f\u5217\u7684\u4e2d\u95f4\u3002.<\/li>\n\n\n\n<li><strong>DP140\uff08\u8111\/\u80be\uff09\uff1a<\/strong>\u00a0<strong>\u7f3a\u5e2d\u7684\u3002.<\/strong>\u00a0<strong>\u8fd9\u662f\u9996\u8981\u8003\u8651\u56e0\u7d20\u3002.<\/strong>\u00a0Dp140 \u4ece\u5916\u663e\u5b50 44 \u5f00\u59cb\u300245-54 \u7684\u7f3a\u5931\u4f1a\u5b8c\u5168\u7834\u574f\u8fd9\u79cd\u86cb\u767d\u8d28\uff0c\u800c\u8fd9\u79cd\u86cb\u767d\u8d28\u5bf9\u80ce\u513f\u5927\u8111\u53d1\u80b2\u81f3\u5173\u91cd\u8981\u3002.<\/li>\n\n\n\n<li><strong>DP71\uff08\u901a\u7528\/\u5927\u8111\uff09\uff1a<\/strong>&nbsp;<strong>\u5df2\u4fdd\u5b58\u3002.<\/strong>&nbsp;Dp71 \u4ece\u5916\u663e\u5b50 63 \u5f00\u59cb\uff0c\u5e76\u4e14\u4e0d\u53d7\u5f71\u54cd\u3002.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>2. \u5bf9\u513f\u7ae5\u53ca\u667a\u5546\u6c34\u5e73\u7684\u5f71\u54cd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ba4\u77e5\u7279\u5f81\uff1a<\/strong>\u00a0Dp140 \u7684\u7f3a\u5931\u4e0e\u5b66\u4e60\u548c\u884c\u4e3a\u969c\u788d\u7684\u53d1\u751f\u7387\u8f83\u9ad8\u5bc6\u5207\u76f8\u5173\u3002\u8fd9\u7c7b\u513f\u7ae5\u901a\u5e38\u6bd4\u643a\u5e26\u65e9\u671f\u5916\u663e\u5b50\u7a81\u53d8\uff08\u5982 8-30\uff09\u7684\u513f\u7ae5\u9762\u4e34\u66f4\u591a\u7684\u8ba4\u77e5\u969c\u788d\u3002.<\/li>\n\n\n\n<li><strong>\u4f30\u8ba1\u667a\u5546\uff1a<\/strong>\u00a0\u7814\u7a76\u8868\u660e\uff0c\u7f3a\u4e4f Dp140\uff08\u5916\u663e\u5b50 44-62 \u4e4b\u95f4\u7684\u7a81\u53d8\uff09\u7684\u513f\u7ae5\u7684\u5e73\u5747\u667a\u5546\u901a\u5e38\u5728 70-75 \u4e4b\u95f4\uff08\u8fb9\u7f18\u667a\u529b\u529f\u80fd\uff09\u3002.<\/li>\n\n\n\n<li><strong>\u795e\u7ecf\u53d1\u80b2\u98ce\u9669\uff1a<\/strong>&nbsp;\u4ee5\u4e0b\u60c5\u51b5\u7684\u98ce\u9669\u663e\u8457\u66f4\u9ad8\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>\u6ce8\u610f\u529b\u7f3a\u9677\u591a\u52a8\u969c\u788d<\/strong>&nbsp;\uff08\u6ce8\u610f\u529b\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff09<\/li>\n\n\n\n<li><strong>\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09<\/strong><\/li>\n\n\n\n<li>\u5de5\u4f5c\u8bb0\u5fc6\u548c\u590d\u6742\u8bed\u8a00\u4efb\u52a1\u65b9\u9762\u5b58\u5728\u56f0\u96be\u3002.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u5bf9\u4e8e\u60a3\u670945-54\u53f7\u5916\u663e\u5b50\u7f3a\u5931\u7684\u513f\u7ae5\uff0c\u4e34\u5e8a\u7ba1\u7406\u5e94\u5305\u62ec\u65e9\u671f\u795e\u7ecf\u5fc3\u7406\u5b66\u8bc4\u4f30\u3002\u867d\u7136\u6700\u91cd\u8981\u7684\u8111\u86cb\u767d\uff08Dp71\uff09\u4ecd\u7136\u5b58\u5728\uff0c\u4f46Dp140\u7684\u7f3a\u5931\u901a\u5e38\u9700\u8981\u989d\u5916\u7684\u6559\u80b2\u652f\u6301\u548c\u8bed\u8a00\u6cbb\u7597\u3002.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"sample-4-deletion-of-exons-64-and-65\"><strong>\u6837\u672c 4\uff1a\u5916\u663e\u5b50 64 \u548c 65 \u7684\u7f3a\u5931<\/strong><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50 64 \u548c 65 \u7684\u7f3a\u5931\u51e0\u4e4e\u5f71\u54cd\u4e86\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u7684\u6240\u6709\u4e3b\u8981\u4e9a\u578b\uff0c\u5305\u62ec\u5bf9\u5927\u8111\u529f\u80fd\u6700\u4e3a\u5173\u952e\u7684\u4e9a\u578b Dp71\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>1.\u53d7\u5f71\u54cd\u7684\u540c\u5de5\u578b<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u7531\u4e8e\u8fd9\u4e9b\u5916\u663e\u5b50\u4f4d\u4e8e\u57fa\u56e0\u672b\u7aef\u9644\u8fd1\uff08\u8fdc\u7aef\u533a\u57df\uff09\uff0c\u5b83\u4eec\u4f1a\u7834\u574f\u4ee5\u4e0b\u5f02\u6784\u4f53\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DP427\uff08\u808c\u8089\/\u5927\u8111\uff09\uff1a<\/strong>&nbsp;\u5168\u957f\u86cb\u767d\u8d28\uff08\u5916\u663e\u5b50 1-79\uff09\u3002.<\/li>\n\n\n\n<li><strong>Dp260\uff08\u89c6\u7f51\u819c\uff09\uff1a<\/strong>&nbsp;\u773c\u90e8\u540c\u5de5\u578b\uff08\u5916\u663e\u5b50 30-79\uff09\u3002.<\/li>\n\n\n\n<li><strong>DP140\uff08\u8111\/\u80be\uff09\uff1a<\/strong>&nbsp;\u8111\u53d1\u80b2\u540c\u5de5\u578b\uff08\u5916\u663e\u5b50 44-79\uff09\u3002.<\/li>\n\n\n\n<li><strong>DP116\uff08\u795e\u7ecf\u7cfb\u7edf\uff09\uff1a<\/strong>&nbsp;\u96ea\u65fa\u6c0f\u7ec6\u80de\u540c\u5de5\u578b\uff08\u5916\u663e\u5b50 56-79\uff09\u3002.<\/li>\n\n\n\n<li><strong>DP71\uff08\u901a\u7528\/\u5927\u8111\uff09\uff1a<\/strong>&nbsp;<strong>\u6700\u4e25\u91cd\u7684\u635f\u5931\u3002.<\/strong>&nbsp;\u7531\u4e8e Dp71 \u4ece\u5916\u663e\u5b50 63 \u5f00\u59cb\uff0c\u56e0\u6b64 64-65 \u5904\u7684\u7f3a\u5931\u4f1a\u76f4\u63a5\u7834\u574f\u5b83\u3002.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>2. \u5bf9\u513f\u7ae5\u53ca\u667a\u5546\u6c34\u5e73\u7684\u5f71\u54cd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ba4\u77e5\u5f71\u54cd\uff1a<\/strong>\u00a0Dp71\u662f\u8111\u5185\u542b\u91cf\u6700\u4e30\u5bcc\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\u3002\u5728\u6240\u6709DMD\u7a81\u53d8\u4e2d\uff0cDp71\u7684\u7f3a\u5931\u4ee3\u8868\u7740\u667a\u529b\u969c\u788d\u98ce\u9669\u6700\u9ad8\u7684\u7fa4\u4f53\u3002.<\/li>\n\n\n\n<li><strong>\u4f30\u8ba1\u667a\u5546\uff1a<\/strong>\u00a0\u7814\u7a76\u8868\u660e\uff0c\u60a3\u6709 Dp71 \u7f3a\u9677\uff08\u5916\u663e\u5b50 63 \u4e4b\u540e\u7684\u7a81\u53d8\uff09\u7684\u513f\u7ae5\u7684\u5e73\u5747\u667a\u5546\u901a\u5e38\u5728 50-60 \u4e4b\u95f4\uff08\u4e2d\u5ea6\u5b66\u4e60\u969c\u788d\uff09\u3002.<\/li>\n\n\n\n<li><strong>\u795e\u7ecf\u7cbe\u795e\u68c0\u67e5\u7ed3\u679c\uff1a<\/strong>&nbsp;\u4e0e\u65e9\u671f\u7a81\u53d8\uff08\u5982\u5916\u663e\u5b50 42-43\uff09\u7684\u4eba\u7fa4\u76f8\u6bd4\uff0c\u8be5\u7fa4\u4f53\u4e2d\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d (ASD)\u3001\u4e25\u91cd\u7684\u8a00\u8bed\/\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u548c\u6ce8\u610f\u529b\u7f3a\u9677\u591a\u52a8\u969c\u788d (ADHD) \u7684\u60a3\u75c5\u7387\u660e\u663e\u66f4\u9ad8\u3002.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u867d\u7136\u5916\u663e\u5b50 42-43 \u7f3a\u5931\u4e3b\u8981\u5f71\u54cd\u808c\u8089\uff0c\u5bf9\u8ba4\u77e5\u80fd\u529b\u7684\u5f71\u54cd\u8f83\u5c0f\uff0c\u4f46\u5916\u663e\u5b50 64-65 \u7f3a\u5931\u4f1a\u663e\u8457\u5f71\u54cd\u808c\u8089\u548c\u5927\u8111\u7684\u57fa\u672c\u5904\u7406\u80fd\u529b\u3002.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"genotype-phenotype-correlation-in-dmd\"><strong>DMD\u7684\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5927\u91cf\u7814\u7a76\u8bc1\u5b9e\uff0c\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u5916\u663e\u5b50\u7f3a\u5931\u548c\u5f02\u6784\u4f53\u7f3a\u9677\u7684\u5f71\u54cd\u53ef\u4ee5\u9884\u6d4b\u75be\u75c5\u7684\u8fdb\u5c55\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"key-findings\"><strong>\u4e3b\u8981\u53d1\u73b0<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dp140 \u7f3a\u4e4f\u4e0e\u667a\u5546\u8f83\u4f4e\u76f8\u5173\uff08Taylor \u7b49\u4eba\uff0c2010\uff09<\/li>\n\n\n\n<li>Dp140\/Dp71 \u8054\u5408\u7f3a\u5931\u4f1a\u5bfc\u81f4\u4e25\u91cd\u7684\u8ba4\u77e5\u7f3a\u9677\uff08Muntoni \u7b49\u4eba\uff0c2003\uff09<\/li>\n\n\n\n<li>\u8fdc\u7aef\u7a81\u53d8\u4e0e\u8f83\u5dee\u7684\u795e\u7ecf\u53d1\u80b2\u7ed3\u679c\u76f8\u5173\u3002<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"implications-for-diagnosis-and-genetic-counseling\"><strong>\u5bf9\u8bca\u65ad\u548c\u9057\u4f20\u54a8\u8be2\u7684\u5f71\u54cd<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u4e86\u89e3\u540c\u5de5\u578b\u53c2\u4e0e\u60c5\u51b5\u6709\u52a9\u4e8e\u4e34\u5e8a\u533b\u751f\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9884\u6d4b\u8ba4\u77e5\u7ed3\u679c<\/li>\n\n\n\n<li>\u63d0\u4f9b\u4e2a\u6027\u5316\u54a8\u8be2<\/li>\n\n\n\n<li>\u5236\u5b9a\u4e2a\u6027\u5316\u7684\u6559\u80b2\u5e72\u9884\u63aa\u65bd<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u57fa\u56e0\u68c0\u6d4b\u5e94\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7cbe\u786e\u7684\u5916\u663e\u5b50\u5b9a\u4f4d<\/li>\n\n\n\n<li>\u540c\u5de5\u578b\u5f71\u54cd\u5206\u6790<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"cognitive-and-behavioral-management-in-dmd\"><strong>DMD\u7684\u8ba4\u77e5\u548c\u884c\u4e3a\u7ba1\u7406<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u8003\u8651\u5230\u540c\u5de5\u9176\u7f3a\u9677\u7684\u4f5c\u7528\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u795e\u7ecf\u5fc3\u7406\u5b66\u8bc4\u4f30\u81f3\u5173\u91cd\u8981<\/li>\n\n\n\n<li>\u6559\u80b2\u652f\u6301\u5e94\u56e0\u4eba\u800c\u5f02<\/li>\n\n\n\n<li>\u53ef\u80fd\u9700\u8981\u8fdb\u884c\u884c\u4e3a\u7597\u6cd5\u3002<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"research-gaps-and-future-perspectives\"><strong>\u7814\u7a76\u7a7a\u767d\u4e0e\u672a\u6765\u5c55\u671b<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5c3d\u7ba1\u53d6\u5f97\u4e86\u8fdb\u5c55\uff0c\u4f46\u5dee\u8ddd\u4f9d\u7136\u5b58\u5728\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5bf9Dp40\u7684\u4e86\u89e3\u6709\u9650<\/li>\n\n\n\n<li>\u7f3a\u4e4f\u9488\u5bf9\u8111\u90e8\u4e9a\u578b\u7684\u7597\u6cd5<\/li>\n\n\n\n<li>\u9700\u8981\u8fdb\u884c\u7eb5\u5411\u8ba4\u77e5\u7814\u7a76<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"frequently-asked-questions-faq\"><strong>\u5e38\u89c1\u95ee\u9898\u89e3\u7b54 (FAQ)<\/strong><\/h2>\n\n\n<div id=\"rank-math-faq\" class=\"rank-math-block\">\n<div class=\"rank-math-list\">\n<div id=\"faq-question-1775911774183\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\"><strong>\u5916\u663e\u5b50\u7f3a\u5931\u5982\u4f55\u5f71\u54cd\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\uff1f<\/strong><\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u5916\u663e\u5b50\u7f3a\u5931\u4f1a\u7834\u574fDMD\u57fa\u56e0\u5185\u7684\u4e0d\u540c\u542f\u52a8\u5b50\uff0c\u4ece\u800c\u5f71\u54cd\u7279\u5b9a\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\uff0c\u4f8b\u5982Dp427\u3001Dp140\u6216Dp71\u3002\u5177\u4f53\u5f71\u54cd\u53d6\u51b3\u4e8e\u7f3a\u5931\u7684\u4f4d\u7f6e\u3002\u4f8b\u5982\uff0c\u5916\u663e\u5b5045-54\u9644\u8fd1\u7684\u7f3a\u5931\u901a\u5e38\u4f1a\u635f\u5bb3\u4e0e\u8ba4\u77e5\u529f\u80fd\u76f8\u5173\u7684Dp140\uff0c\u800c\u6240\u6709\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u60a3\u8005\u90fd\u7f3a\u4e4fDp427\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1775911784280\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\"><strong>\u5728\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u4e2d\uff0c\u54ea\u79cd\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\u6700\u4e3a\u91cd\u8981\uff1f<\/strong><\/h3>\n<div class=\"rank-math-answer\">\n\n<p>DP427\u662f\u6700\u5173\u952e\u7684\u4e9a\u578b\uff0c\u56e0\u4e3a\u5b83\u7ef4\u6301\u7740\u808c\u7ea4\u7ef4\u7684\u7a33\u5b9a\u6027\u3002\u5b83\u7684\u7f3a\u5931\u4f1a\u5bfc\u81f4\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u7684\u4e3b\u8981\u75c7\u72b6\uff0c\u5305\u62ec\u8fdb\u884c\u6027\u808c\u65e0\u529b\u3002\u7136\u800c\uff0c\u5176\u4ed6\u4e9a\u578b\uff0c\u4f8b\u5982DP140\u548cDP71\uff0c\u5bf9\u5927\u8111\u529f\u80fd\u5f88\u91cd\u8981\uff0c\u5e76\u5f71\u54cd\u8ba4\u77e5\u7ed3\u679c\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1775911796215\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\"><strong>\u4e3a\u4ec0\u4e48\u6709\u4e9b\u60a3\u6709\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7684\u513f\u7ae5\u4f1a\u51fa\u73b0\u5b66\u4e60\u56f0\u96be\uff1f<\/strong><\/h3>\n<div class=\"rank-math-answer\">\n\n<p>DMD \u60a3\u8005\u7684\u5b66\u4e60\u56f0\u96be\u901a\u5e38\u4e0e\u5927\u8111\u8868\u8fbe\u7684\u5f02\u6784\u4f53\uff08\u5982 Dp140 \u548c Dp71\uff09\u7684\u7f3a\u9677\u6709\u5173\u3002\u5f53\u8fd9\u4e9b\u5f02\u6784\u4f53\u53d7\u5230\u5916\u663e\u5b50\u7f3a\u5931\u7684\u5f71\u54cd\u65f6\uff0c\u513f\u7ae5\u53ef\u80fd\u4f1a\u51fa\u73b0\u8ba4\u77e5\u8fdf\u7f13\u3001\u6ce8\u610f\u529b\u7f3a\u9677\u6216\u884c\u4e3a\u6311\u6218\uff0c\u800c\u4e0e\u808c\u8089\u75be\u75c5\u7684\u4e25\u91cd\u7a0b\u5ea6\u65e0\u5173\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1775911805094\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\"><strong>DMD \u4e2d\u5916\u663e\u5b50 45-54 \u7f3a\u5931\u4f1a\u53d1\u751f\u4ec0\u4e48\uff1f<\/strong><\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u5916\u663e\u5b5045-54\u7684\u7f3a\u5931\u901a\u5e38\u4f1a\u7834\u574f\u4e3b\u8981\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff08Dp427\uff09\uff0c\u5e76\u4e14\u5e38\u5e38\u5f71\u54cdDp140\uff0c\u5bfc\u81f4\u808c\u8089\u65e0\u529b\u548c\u8ba4\u77e5\u969c\u788d\u98ce\u9669\u589e\u52a0\u3002\u5176\u4ed6\u4e9a\u578b\uff08\u5982Dp71\uff09\u901a\u5e38\u5f97\u4ee5\u4fdd\u7559\uff0c\u56e0\u6b64\u4e0e\u66f4\u8fdc\u7aef\u7684\u7f3a\u5931\u76f8\u6bd4\uff0c\u4e25\u91cd\u7684\u667a\u529b\u969c\u788d\u5e76\u4e0d\u5e38\u89c1\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1775911812975\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\"><strong>\u5916\u663e\u5b50\u7f3a\u5931\u53ef\u4ee5\u6cbb\u7597\u6216\u7ea0\u6b63\u5417\uff1f<\/strong><\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u867d\u7136\u76ee\u524d\u65e0\u6cd5\u6c38\u4e45\u201c\u4fee\u590d\u201d\u5916\u663e\u5b50\u7f3a\u5931\uff0c\u4f46\u8bf8\u5982\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u4e4b\u7c7b\u7684\u6cbb\u7597\u65b9\u6cd5\u65e8\u5728\u6062\u590d\u9605\u8bfb\u6846\uff0c\u5e76\u4ea7\u751f\u8f83\u77ed\u4f46\u529f\u80fd\u6b63\u5e38\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u3002\u57fa\u56e0\u7597\u6cd5\u4e5f\u5728\u7814\u53d1\u4e2d\uff0c\u65e8\u5728\u9012\u9001\u5fae\u578b\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff0c\u4ece\u800c\u6539\u5584\u808c\u8089\u529f\u80fd\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1775911844807\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\"><strong>\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u4e2d\uff0c\u6bcf\u4e2a\u5916\u663e\u5b50\u7f3a\u5931\u90fd\u4f1a\u5bfc\u81f4\u76f8\u540c\u7a0b\u5ea6\u7684\u75be\u75c5\u5417\uff1f<\/strong><\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u4e0d\uff0c\u4e25\u91cd\u7a0b\u5ea6\u53d6\u51b3\u4e8e\u7f3a\u5931\u662f\u5426\u7834\u574f\u4e86\u9605\u8bfb\u6846\u4ee5\u53ca\u53d7\u5f71\u54cd\u7684\u4e9a\u578b\u3002\u4ec5\u5f71\u54cdDp427\u7684\u7f3a\u5931\u4e3b\u8981\u5f15\u8d77\u808c\u8089\u75c7\u72b6\uff0c\u800c\u540c\u65f6\u5f71\u54cdDp140\u6216Dp71\u7684\u7f3a\u5931\u5219\u4f1a\u589e\u52a0\u8ba4\u77e5\u548c\u884c\u4e3a\u5e76\u53d1\u75c7\u7684\u98ce\u9669\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1775911849534\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\"><strong>Dp140\u5728\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u8d77\u4ec0\u4e48\u4f5c\u7528\uff1f<\/strong><\/h3>\n<div class=\"rank-math-answer\">\n\n<p>Dp140 \u5728\u5927\u8111\u53d1\u80b2\u548c\u8ba4\u77e5\u529f\u80fd\u4e2d\u8d77\u7740\u5173\u952e\u4f5c\u7528\u3002Dp140 \u7684\u7f3a\u4e4f\u4e0e\u5b66\u4e60\u969c\u788d\u3001\u667a\u5546\u8f83\u4f4e\u4ee5\u53ca\u795e\u7ecf\u884c\u4e3a\u969c\u788d\uff08\u5982 DMD \u60a3\u8005\u7684 ADHD \u6216\u81ea\u95ed\u75c7\u8c31\u7cfb\u7279\u5f81\uff09\u5bc6\u5207\u76f8\u5173\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1775911858497\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\"><strong>DMD\u60a3\u8005\u51fa\u73b0\u89c6\u529b\u95ee\u9898\u5e38\u89c1\u5417\uff1f<\/strong><\/h3>\n<div class=\"rank-math-answer\">\n\n<p>DMD\u60a3\u8005\u7684\u89c6\u529b\u95ee\u9898\u901a\u5e38\u8f83\u8f7b\u5fae\u6216\u65e0\u4e34\u5e8a\u75c7\u72b6\u3002\u90e8\u5206\u60a3\u8005\u53ef\u80fd\u56e0Dp260\u7f3a\u9677\u800c\u51fa\u73b0\u89c6\u7f51\u819c\u5f02\u5e38\uff0c\u4f46\u8fd9\u4e9b\u5f02\u5e38\u5f88\u5c11\u5f71\u54cd\u65e5\u5e38\u89c6\u529b\u3002\u5927\u591a\u6570\u89c6\u529b\u53d8\u5316\u53ea\u80fd\u901a\u8fc7\u89c6\u7f51\u819c\u7535\u56fe\u7b49\u7279\u6b8a\u68c0\u67e5\u624d\u80fd\u68c0\u6d4b\u5230\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1775911875774\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\"><strong>\u4e3a\u4ec0\u4e48\u57fa\u56e0\u68c0\u6d4b\u5728\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u4e2d\u5982\u6b64\u91cd\u8981\uff1f<\/strong><\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u57fa\u56e0\u68c0\u6d4b\u53ef\u4ee5\u7cbe\u786e\u5b9a\u4f4d\u5916\u663e\u5b50\u7f3a\u5931\uff0c\u5e76\u6709\u52a9\u4e8e\u9884\u6d4b\u54ea\u4e9b\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\u53d7\u5230\u5f71\u54cd\u3002\u8fd9\u4e9b\u4fe1\u606f\u5bf9\u4e8e\u9884\u540e\u5224\u65ad\u3001\u8ba4\u77e5\u8bc4\u4f30\u3001\u7279\u5b9a\u7597\u6cd5\uff08\u5982\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\uff09\u7684\u9002\u7528\u6027\u4ee5\u53ca\u4e2a\u4f53\u5316\u75be\u75c5\u7ba1\u7406\u81f3\u5173\u91cd\u8981\u3002.<\/p>\n\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">\u9605\u8bfb\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/duchenne-muscular-dystrophy-brain-effects\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u5982\u4f55\u5f71\u54cd\u5927\u8111\uff1f<\/a><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"conclusion\"><strong>\u7ed3\u8bba<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u5916\u663e\u5b50\u7f3a\u5931\u548c\u5f02\u6784\u4f53\u7f3a\u9677\u7684\u5f71\u54cd\u8fdc\u8fdc\u8d85\u51fa\u808c\u8089\u9000\u5316\u3002.<\/strong> \u6bcf\u79cd\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e9a\u578b\u2014\u2014Dp427\u3001Dp260\u3001Dp140\u3001Dp116\u3001Dp71 \u548c Dp40\u2014\u2014\u5728\u4e0d\u540c\u7684\u7ec4\u7ec7\u4e2d\u53d1\u6325\u7740\u72ec\u7279\u7684\u4f5c\u7528\uff0c\u5b83\u4eec\u7684\u8054\u5408\u7f3a\u5931\u51b3\u5b9a\u4e86\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7684\u5168\u90e8\u4e34\u5e8a\u8868\u73b0\u3002\u6df1\u5165\u4e86\u89e3\u8fd9\u4e9b\u673a\u5236\u5bf9\u4e8e\u6539\u8fdb\u8bca\u65ad\u3001\u9884\u540e\u548c\u6cbb\u7597\u7b56\u7565\u81f3\u5173\u91cd\u8981\u3002.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"references-citations\"><strong><strong>\u5b66\u672f\u8d44\u6e90\u548c\u53c2\u8003\u6587\u732e<\/strong><\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Szwec, S.\u3001Durska, A.\u3001Ko\u015bcielniak-Wawro, P. \u7b49\u4eba\u3002. <a href=\"https:\/\/www.nature.com\/articles\/s41419-026-08725-x\" target=\"_blank\" rel=\"noopener\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767dDP71\u548cDP427\u51b3\u5b9a\u7ec6\u80de\u589e\u6b96\u548c\u808c\u7ea4\u7ef4\u5206\u5316\u8fc7\u7a0b\u4e2d\u7684\u7ec6\u80de\u6d3b\u529b\u3002<\/a>. .\u7ec6\u80de\u6b7b\u4ea1\u75be\u75c5\uff082026\uff09\u3002.<\/li>\n\n\n\n<li>Kate Maresh \u7b49\u4eba. <a href=\"https:\/\/academic.oup.com\/brain\/article\/146\/1\/252\/6524445\" target=\"_blank\" rel=\"noopener\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u7684\u60ca\u5413\u53cd\u5e94\uff1a\u8111\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7f3a\u4e4f\u75c7\u7684\u65b0\u578b\u751f\u7269\u6807\u5fd7\u7269<\/a>. 2023.<\/li>\n\n\n\n<li>\u8499\u6258\u5c3c\u00b7F\u3001\u6258\u96f7\u5229\u00b7S\u3001\u8d39\u91cc\u5c3c\u00b7A. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/14636778\/\" target=\"_blank\" rel=\"noopener\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u53ca\u5176\u7a81\u53d8\uff1a\u4e00\u4e2a\u57fa\u56e0\uff0c\u591a\u79cd\u86cb\u767d\u8d28\uff0c\u591a\u79cd\u8868\u578b<\/a>. \u300a\u67f3\u53f6\u5200\u795e\u7ecf\u75c5\u5b66\u300b\uff0c2003\u5e74\u3002.<\/li>\n\n\n\n<li>Taylor PJ \u7b49\u4eba. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/20098710\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u7a81\u53d8\u4f4d\u7f6e\u4e0e\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u7684\u8ba4\u77e5\u969c\u788d<\/a>. \u795e\u7ecf\u75c5\u5b66\uff0c2010 \u5e74\u3002.<\/li>\n\n\n\n<li>Doorenweerd N \u7b49\u4eba. <a href=\"https:\/\/www.nature.com\/articles\/s41598-017-12981-5\" target=\"_blank\" rel=\"noreferrer noopener\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u7684\u8111\u90e8\u53d7\u7d2f<\/a>. Brain\uff0c2017\u3002.<\/li>\n\n\n\n<li>Blake DJ \u7b49\u4eba. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/11917091\/\" target=\"_blank\" rel=\"noopener\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u529f\u80fd\u548c\u9057\u4f20\u5b66<\/a>. \u751f\u7406\u5b66\u8bc4\u8bba\uff0c2002 \u5e74\u3002.<\/li>\n\n\n\n<li>Hoffman EP \u7b49\u4eba. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/3319190\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff1a\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u57fa\u56e0\u7684\u86cb\u767d\u8d28\u4ea7\u7269<\/a>. Cell\uff0c1987\u3002.<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>Duchenne muscular dystrophy (DMD) is a severe, progressive neuromuscular disorder caused by mutations in the dystrophin gene. Among these, the effects of exon deletions and isoform deficiencies in Duchenne muscular dystrophy play a central role in disease variability, severity, and multi-system involvement. These mutations disrupt not only full-length dystrophin but also shorter isoforms such as [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":7590,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[596,666,663,662,661,665,660,664,175,667,679,598],"class_list":["post-3569","post","type-post","status-publish","format-standard","has-post-thumbnail","category-dmd","tag-dmd-brain-effects","tag-dmd-isoforms","tag-dp116-peripheral-nerves","tag-dp140-cognitive-impairment","tag-dp260-retina","tag-dp40-synaptic-function","tag-dp427-dystrophin","tag-dp71-brain-function","tag-exon-deletions","tag-eye-problems-in-dmd","tag-iq-level","tag-learning-disabilities"],"_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts\/3569","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/comments?post=3569"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts\/3569\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/media\/7590"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/media?parent=3569"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/categories?post=3569"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/tags?post=3569"}],"curies":[{"name":"\u53ef\u6e7f\u6027\u7c89\u5242","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}