{"id":3338,"date":"2026-08-10T17:10:33","date_gmt":"2026-08-10T14:10:33","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=3338"},"modified":"2026-08-10T17:36:32","modified_gmt":"2026-08-10T14:36:32","slug":"mutations-amenable-to-exon-45-skipping","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/zh\/mutations-amenable-to-exon-45-skipping\/","title":{"rendered":"DMD \u4e2d\u7684\u5916\u663e\u5b50 45 \u8df3\u8dc3\uff1a\u53ef\u80fd\u7b26\u5408\u6761\u4ef6\u7684\u7f3a\u5931\u548c\u7a81\u53d8"},"content":{"rendered":"<p class=\"wp-block-paragraph\">\u8fd1\u5e74\u6765\uff0c\u5916\u663e\u5b50\u8df3\u8dc3\u5df2\u6210\u4e3a\u6cbb\u7597\u67d0\u4e9b\u7c7b\u578b\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u7a81\u53d8\u7684\u4e00\u79cd\u5f88\u6709\u524d\u666f\u7684\u6cbb\u7597\u7b56\u7565\u3002\u5916\u663e\u5b5045\u8df3\u8dc3\u662f\u76ee\u524d\u7814\u7a76\u6700\u591a\u7684\u9488\u5bf9\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7279\u5b9a\u7a81\u53d8\u7684\u7b56\u7565\u4e4b\u4e00\u3002. <strong>\u90a3\u4e48\uff0c\u60a8\u662f\u5426\u60f3\u77e5\u9053\u54ea\u4e9b\u7a81\u53d8\u9002\u5408\u8fdb\u884c\u7b2c 45 \u5916\u663e\u5b50\u8df3\u8dc3\uff1f<\/strong> \u8fd9\u79cd\u65b9\u6cd5\u65e8\u5728RNA\u526a\u63a5\u8fc7\u7a0b\u4e2d\u8df3\u8fc7\u4e00\u4e2a\u6709\u7f3a\u9677\u7684\u5916\u663e\u5b50\uff0c\u4ece\u800c\u6062\u590d\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u7684\u9605\u8bfb\u6846\uff0c\u8fdb\u800c\u4ea7\u751f\u4e00\u4e2a\u622a\u77ed\u4f46\u529f\u80fd\u6b63\u5e38\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u3002\u6062\u590d\u8fd9\u79cd\u86cb\u767d\u529f\u80fd\u53ef\u4ee5\u5ef6\u7f13\u75be\u75c5\u8fdb\u5c55\uff0c\u5e76\u6539\u5584\u643a\u5e26\u7279\u5b9a\u7a81\u53d8\u60a3\u8005\u7684\u808c\u8089\u529f\u80fd\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u53ef\u901a\u8fc7\u5916\u663e\u5b50 45 \u8df3\u8dc3\u8fdb\u884c\u6cbb\u7597\u7684\u7f3a\u5931\u662f DMD \u57fa\u56e0\u4e2d\u7684\u7279\u5b9a\u53d8\u5316\uff0c\u53ef\u4ee5\u901a\u8fc7\u4ece\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4fe1\u4f7f RNA \u4e2d\u79fb\u9664\u5916\u663e\u5b50 45 \u6765\u8fdb\u884c\u6cbb\u7597\u3002.<\/strong> \u5bf9\u4e8e\u53d7\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 (DMD) \u5f71\u54cd\u7684\u5bb6\u5ead\u800c\u8a00\uff0c\u4e86\u89e3\u5b69\u5b50\u7684\u57fa\u56e0\u7a81\u53d8\u662f\u5426\u9002\u5408\u8fdb\u884c\u7b2c 45 \u53f7\u5916\u663e\u5b50\u8df3\u8dc3\u624b\u672f\uff0c\u5bf9\u4e8e\u8003\u8651\u9488\u5bf9\u7279\u5b9a\u7a81\u53d8\u7684\u6cbb\u7597\u65b9\u6848\u81f3\u5173\u91cd\u8981\u3002\u7136\u800c\uff0c\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u4e2d\u5b58\u5728\u7279\u5b9a\u7f3a\u5931\u672c\u8eab\u5e76\u4e0d\u80fd\u786e\u5b9a\u662f\u5426\u7b26\u5408\u6cbb\u7597\u6761\u4ef6\u3002\u5b8c\u6574\u7684\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u5e94\u7531\u795e\u7ecf\u808c\u8089\u4e13\u79d1\u533b\u751f\u6216\u9057\u4f20\u54a8\u8be2\u5e08\u8fdb\u884c\u5ba1\u6838\u3002\u4e86\u89e3\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/what-is-exon-skipping-and-how-does-it-work\/\" data-type=\"post\" data-id=\"1445\" target=\"_blank\" rel=\"noreferrer noopener\">\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u8df3\u8dc3<\/a><\/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=\"#what-is-exon-45-skipping-in-duchenne-muscular-dystrophy\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u7684\u5916\u663e\u5b5045\u8df3\u8dc3\u662f\u4ec0\u4e48\uff1f<\/a><\/li><li><a href=\"#which-dmd-deletions-are-amenable-to-exon-45-skipping\">\u54ea\u4e9bDMD\u7f3a\u5931\u7a81\u53d8\u9002\u5408\u8fdb\u884c\u5916\u663e\u5b5045\u8df3\u8dc3\u4fee\u590d\uff1f<\/a><\/li><li><a href=\"#why-does-the-reading-frame-matter\">\u9605\u8bfb\u6846\u67b6\u4e3a\u4f55\u91cd\u8981\uff1f<\/a><\/li><li><a href=\"#which-dmd-mutations-can-be-treated-by-exon-45-skipping\">\u54ea\u4e9bDMD\u7a81\u53d8\u53ef\u4ee5\u901a\u8fc7\u5916\u663e\u5b5045\u8df3\u8dc3\u7597\u6cd5\u8fdb\u884c\u6cbb\u7597\uff1f<\/a><\/li><li><a href=\"#is-my-dmd-mutation-amenable-to-exon-45-skipping\">\u6211\u7684DMD\u57fa\u56e0\u7a81\u53d8\u662f\u5426\u9002\u5408\u8fdb\u884c\u5916\u663e\u5b5045\u8df3\u8dc3\u624b\u672f\uff1f<\/a><\/li><li><a href=\"#exon-45-skipping-treatment-casimersen\">\u5916\u663e\u5b5045\u8df3\u8dc3\u6cbb\u7597\uff1a\u5361\u897f\u9ed8\u68ee<\/a><\/li><li><a href=\"#exon-45-skipping-is-not-the-same-for-every-patient\">\u5916\u663e\u5b5045\u8df3\u8dc3\u5bf9\u6bcf\u4f4d\u60a3\u8005\u7684\u5f71\u54cd\u5e76\u4e0d\u76f8\u540c\u3002<\/a><\/li><li><a href=\"#how-to-check-whether-a-dmd-deletion-is-exon-45-skip-amenable\">\u5982\u4f55\u5224\u65adDMD\u7f3a\u5931\u662f\u5426\u9002\u5408\u8fdb\u884c\u5916\u663e\u5b5045\u8df3\u8dc3\u624b\u672f<\/a><\/li><li><a href=\"#why-accurate-genetic-testing-matters\">\u4e3a\u4ec0\u4e48\u51c6\u786e\u7684\u57fa\u56e0\u68c0\u6d4b\u81f3\u5173\u91cd\u8981<\/a><\/li><li><a href=\"#frequently-asked-questions-about-exon-45-skipping\">\u5173\u4e8e\u5916\u663e\u5b5045\u8df3\u8dc3\u7684\u5e38\u89c1\u95ee\u9898<\/a><ul><li><a href=\"#faq-question-1786370195246\">\u54ea\u4e9b\u7f3a\u5931\u53ef\u4ee5\u901a\u8fc7\u8df3\u8fc7\u7b2c 45 \u5916\u663e\u5b50\u8fdb\u884c\u4fee\u590d\uff1f<\/a><\/li><li><a href=\"#faq-question-1786370214456\">\u5916\u663e\u5b50 46 \u7f3a\u5931\u662f\u5426\u53ef\u4ee5\u901a\u8fc7\u8df3\u8fc7\u5916\u663e\u5b50 45 \u6765\u5b9e\u73b0\uff1f<\/a><\/li><li><a href=\"#faq-question-1786370222218\">\u5916\u663e\u5b50 46-49 \u7f3a\u5931\u662f\u5426\u53ef\u4ee5\u901a\u8fc7\u5916\u663e\u5b50 45 \u8df3\u8dc3\u8fdb\u884c\u4fee\u590d\uff1f<\/a><\/li><li><a href=\"#faq-question-1786370242273\">\u9488\u5bf9\u5916\u663e\u5b5045\u8df3\u8dc3\u7a81\u53d8\uff0c\u6709\u54ea\u4e9b\u6cbb\u7597\u65b9\u6cd5\uff1f<\/a><\/li><li><a href=\"#faq-question-1786370250501\">\u53ef\u884c\u7a81\u53d8\u662f\u5426\u80fd\u4fdd\u8bc1\u5916\u663e\u5b50\u8df3\u8dc3\u6210\u529f\uff1f<\/a><\/li><\/ul><\/li><li><a href=\"#conclusion\">\u7ed3\u8bba<\/a><\/li><\/ul><\/nav><\/div>\n\n\n\n<h2 id=\"what-is-exon-45-skipping-in-duchenne-muscular-dystrophy\" class=\"wp-block-heading\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u7684\u5916\u663e\u5b5045\u8df3\u8dc3\u662f\u4ec0\u4e48\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u662f\u7531DMD\u57fa\u56e0\u7684\u81f4\u75c5\u53d8\u5f02\u5f15\u8d77\u7684\uff0c\u8be5\u57fa\u56e0\u7f16\u7801\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff0c\u8fd9\u79cd\u86cb\u767d\u8d28\u6709\u52a9\u4e8e\u5728\u808c\u8089\u6536\u7f29\u671f\u95f4\u4fdd\u62a4\u808c\u7ea4\u7ef4\u3002\u5927\u7247\u6bb5\u7f3a\u5931\u662f\u5bfc\u81f4DMD\u75be\u75c5\u7684\u5e38\u89c1\u53d8\u5f02\u7c7b\u578b\u4e4b\u4e00\u3002\u7acb\u5373\u4e86\u89e3\u66f4\u591a\uff1a\u00a0<a href=\"https:\/\/dmdwarrior.com\/zh\/dystrophin-gene\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u4ec0\u4e48\u662fDMD\u57fa\u56e0\uff1f<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u6709\u4e9b\u57fa\u56e0\u7f3a\u5931\u4f1a\u7834\u574f\u57fa\u56e0\u7684\u9605\u8bfb\u6846\u3002\u5f53\u8fd9\u79cd\u60c5\u51b5\u53d1\u751f\u65f6\uff0c\u4ea7\u751f\u7684\u4fe1\u4f7fRNA\u53ef\u80fd\u65e0\u6cd5\u63d0\u4f9b\u5408\u6210\u529f\u80fd\u6027\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u6b63\u786e\u6307\u4ee4\u3002\u5916\u663e\u5b50\u8df3\u8dc3\u6280\u672f\u65e8\u5728RNA\u52a0\u5de5\u8fc7\u7a0b\u4e2d\u79fb\u9664\u7279\u5b9a\u7684\u5916\u663e\u5b50\uff0c\u4ece\u800c\u4f7f\u5269\u4f59\u5e8f\u5217\u6062\u590d\u5230\u6b63\u786e\u7684\u9605\u8bfb\u6846\u5185\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5728\u7b2c45\u53f7\u5916\u663e\u5b50\u8df3\u8dc3\u4e2d\uff0c\u8bbe\u8ba1\u4e00\u79cd\u53cd\u4e49\u5be1\u6838\u82f7\u9178\u4e0e\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u524d\u4f53mRNA\u7684\u7b2c45\u53f7\u5916\u663e\u5b50\u7ed3\u5408\uff0c\u5e76\u4fc3\u8fdb\u5176\u5728RNA\u52a0\u5de5\u8fc7\u7a0b\u4e2d\u88ab\u6392\u9664\u3002\u5176\u76ee\u7684\u662f\u4ea7\u751f\u4e00\u79cd\u8f83\u77ed\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff0c\u8be5\u86cb\u767d\u53ef\u80fd\u4fdd\u7559\u91cd\u8981\u7684\u529f\u80fd\u7279\u6027\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u8fd9\u79cd\u65b9\u6cd5\u5177\u6709\u7a81\u53d8\u7279\u5f02\u6027\u3002\u53ea\u6709\u5f53\u60a3\u8005\u7684DMD\u57fa\u56e0\u4e2d\u5b58\u5728\u5916\u663e\u5b5045\u65f6\uff0c\u5916\u663e\u5b5045\u8df3\u8dc3\u7b56\u7565\u624d\u80fd\u594f\u6548\u3002.<\/p>\n\n\n\n<h2 id=\"which-dmd-deletions-are-amenable-to-exon-45-skipping\" class=\"wp-block-heading\">\u54ea\u4e9bDMD\u7f3a\u5931\u7a81\u53d8\u9002\u5408\u8fdb\u884c\u5916\u663e\u5b5045\u8df3\u8dc3\u4fee\u590d\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u4e34\u5e8a\u548c\u6cbb\u7597\u6587\u732e\u4e2d\u63cf\u8ff0\uff0c\u53ef\u901a\u8fc7\u5916\u663e\u5b50 45 \u8df3\u8dc3\u8fdb\u884c\u4fee\u590d\u7684\u5e38\u89c1\u7f3a\u5931\u5305\u62ec\uff1a<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>7-44\u300112-44\u300118-44\u300144\u300146\u300146-47\u300146-48\u300146-49\u300146-51\u300146-53\u300146-55\u300146-57\u300146-59\u300146-60\u300146-67\u300146-69\u300146-75 \u548c 46-78\u3002.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"968\" height=\"1024\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-968x1024.jpg\" alt=\"\u53ef\u5bfc\u81f4\u5916\u663e\u5b50 45 \u8df3\u8dc3\u7684\u7a81\u53d8\" class=\"wp-image-3341\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-968x1024.jpg 968w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-284x300.jpg 284w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-768x813.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-1452x1536.jpg 1452w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-11x12.jpg 11w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-397x420.jpg 397w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-150x159.jpg 150w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-300x317.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-696x737.jpg 696w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping-1068x1130.jpg 1068w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/03\/Mutations-are-Amenable-to-Exon-45-Skipping.jpg 1890w\" sizes=\"(max-width: 968px) 100vw, 968px\" \/><figcaption class=\"wp-element-caption\"><strong>\u53ef\u5bfc\u81f4\u5916\u663e\u5b50 45 \u8df3\u8dc3\u7684\u7a81\u53d8<\/strong><\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u8be5\u5217\u8868\u4e5f\u53cd\u6620\u5728\u6709\u5173\u5361\u897f\u9ed8\u68ee\u7684\u6559\u80b2\u8d44\u6e90\u4e2d\uff0c\u4ee5\u53ca\u5df2\u53d1\u8868\u7684\u5173\u4e8e\u53ef\u8fdb\u884c\u5916\u663e\u5b50 45 \u8df3\u8dc3\u7684\u7a81\u53d8\u7684\u63cf\u8ff0\u4e2d\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u8be5\u6807\u8bb0\u63cf\u8ff0\u4e86\u88ab\u5220\u9664\u7684\u5916\u663e\u5b50\u3002\u4f8b\u5982\uff0c46-49 \u8868\u793a\u5916\u663e\u5b50 46\u300147\u300148 \u548c 49 \u7f3a\u5931\u3002\u76f8\u53cd\uff0c\u5355\u72ec\u7684 44 \u8868\u793a\u5916\u663e\u5b50 44 \u88ab\u5220\u9664\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u91cd\u8981\u7684\u662f\uff0c\u8fd9\u4efd\u5217\u8868\u4e0d\u5e94\u88ab\u89e3\u8bfb\u4e3a\u57fa\u56e0\u5206\u6790\u7684\u66ff\u4ee3\u54c1\u3002\u770b\u4f3c\u76f8\u4f3c\u7684\u7f3a\u5931\u62a5\u544a\u53ef\u80fd\u4ea7\u751f\u4e0d\u540c\u7684\u540e\u679c\uff0c\u8fd9\u53d6\u51b3\u4e8e\u5177\u4f53\u7f3a\u5931\u7684\u662f\u54ea\u4e9b\u5916\u663e\u5b50\uff0c\u4ee5\u53ca\u7531\u6b64\u4ea7\u751f\u7684\u8f6c\u5f55\u672c\u662f\u6846\u5185\u8fd8\u662f\u6846\u5916\u3002.<\/p>\n\n\n\n<h2 id=\"why-does-the-reading-frame-matter\" class=\"wp-block-heading\">\u9605\u8bfb\u6846\u67b6\u4e3a\u4f55\u91cd\u8981\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u8df3\u8dc3\u80cc\u540e\u7684\u6838\u5fc3\u6982\u5ff5\u662f\u9605\u8bfb\u6846\u89c4\u5219\u3002\u5f53\u7f3a\u5931\u7834\u574f\u4e86\u7528\u4e8e\u5c06\u4fe1\u4f7fRNA\u7ffb\u8bd1\u6210\u86cb\u767d\u8d28\u7684\u4e09\u78b1\u57fa\u9605\u8bfb\u6846\u65f6\uff0c\u4ea7\u751f\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u53ef\u80fd\u4e25\u91cd\u7f29\u77ed\u6216\u7f3a\u5931\u3002\u8df3\u8fc7\u4e00\u4e2a\u989d\u5916\u7684\u5916\u663e\u5b50\u6709\u65f6\u53ef\u4ee5\u6062\u590d\u9605\u8bfb\u6846\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f8b\u5982\uff0c\u7814\u7a76\u4eba\u5458\u53d1\u73b0\uff0c\u5916\u663e\u5b5046-49\u7684\u7f3a\u5931\u53ef\u4ee5\u901a\u8fc7\u8df3\u8fc7\u5916\u663e\u5b5045\u6765\u5b9e\u73b0\u3002\u76f8\u6bd4\u4e4b\u4e0b\uff0c\u6d89\u53ca\u5916\u663e\u5b5045-47\u7684\u7f3a\u5931\u53ef\u4ee5\u4ea7\u751f\u540c\u6846\u8f6c\u5f55\u672c\uff0c\u56e0\u6b64\u9884\u8ba1\u4e0d\u4f1a\u4ee5\u540c\u6837\u7684\u65b9\u5f0f\u53d7\u76ca\u4e8e\u8df3\u8fc7\u5916\u663e\u5b5045\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5bf9\u4e8e\u9605\u8bfb\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u7684\u5bb6\u5ead\u6765\u8bf4\uff0c\u8fd9\u79cd\u533a\u522b\u5c24\u4e3a\u91cd\u8981\u3002\u4f8b\u5982\uff0c\u4ec5\u4ec5\u770b\u5230\u201c\u5916\u663e\u5b5046\u7f3a\u5931\u201d\u5e76\u4e0d\u8db3\u4ee5\u786e\u5b9a\u5408\u9002\u7684\u6cbb\u7597\u65b9\u6848\u3002\u5b9e\u9a8c\u5ba4\u62a5\u544a\u5e94\u8be5\u660e\u786e\u6307\u51fa\u5b8c\u6574\u7684\u7f3a\u5931\u60c5\u51b5\u53ca\u5176\u9884\u671f\u540e\u679c\u3002.<\/p>\n\n\n\n<h2 id=\"which-dmd-mutations-can-be-treated-by-exon-45-skipping\" class=\"wp-block-heading\">\u54ea\u4e9bDMD\u7a81\u53d8\u53ef\u4ee5\u901a\u8fc7\u5916\u663e\u5b5045\u8df3\u8dc3\u7597\u6cd5\u8fdb\u884c\u6cbb\u7597\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u77ed\u8bed\u201c\u9002\u7528\u4e8e\u5916\u663e\u5b50 45 \u8df3\u8dc3\u7684 DMD \u7a81\u53d8\u201d\u901a\u5e38\u662f\u6307\u8df3\u8dc3\u5916\u663e\u5b50 45 \u6709\u671b\u6062\u590d\u9605\u8bfb\u6846\u6216\u4ea7\u751f\u6f5c\u5728\u529f\u80fd\u6027\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u8f6c\u5f55\u672c\u7684\u7a81\u53d8\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u6d89\u53ca\u5916\u663e\u5b50 46 \u53ca\u4ee5\u540e\u7684\u5927\u7247\u6bb5\u7f3a\u5931\u6a21\u5f0f\u5728\u6b64\u80cc\u666f\u4e0b\u5c24\u4e3a\u91cd\u8981\u3002. <strong>\u5df2\u516c\u5e03\u7684\u6e05\u5355\u5305\u62ec 46-47\u300146-48\u300146-49\u300146-51\u300146-53\u300146-55\u300146-57\u300146-59\u300146-60\u300146-67\u300146-69\u300146-75 \u548c 46-78\u3002.<\/strong> \u4ece\u8f83\u65e9\u7684\u5916\u663e\u5b50\u5ef6\u4f38\u5230\u5916\u663e\u5b50 44 \u7684\u7f3a\u5931\uff0c\u5305\u62ec 7-44\u300112-44 \u548c 18-44\uff0c\u4e5f\u5305\u542b\u5728\u901a\u5e38\u5f15\u7528\u7684\u7406\u8bba\u4e0a\u53ef\u8df3\u8fc7\u5916\u663e\u5b50 45 \u7684\u7f3a\u5931\u5217\u8868\u4e2d\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u79d1\u5b66\u7814\u7a76\u652f\u6301\u8bc4\u4f30\u7f3a\u5931\u7ed3\u6784\u7684\u91cd\u8981\u6027\uff0c\u800c\u4e0d\u4ec5\u4ec5\u662f\u8bc6\u522b\u5355\u4e2a\u7f3a\u5931\u7684\u5916\u663e\u5b50\u30022021 \u5e74\u53d1\u8868\u4e8e\u300a\u79d1\u5b66\u62a5\u544a\u300b\u7684\u4e00\u9879\u7814\u7a76\u9610\u660e\u4e86\u8fd9\u4e00\u70b9\u7684\u91cd\u8981\u6027\uff1a\u4fa7\u7ffc\u5916\u663e\u5b50\u7684\u7f3a\u5931\u53ef\u80fd\u5bf9\u5e94\u4e0d\u540c\u7684\u6f5c\u5728\u7f3a\u5931\u6a21\u5f0f\uff0c\u5176\u4e2d\u4e00\u79cd\u6a21\u5f0f\u53ef\u80fd\u9002\u7528\u4e8e\u5916\u663e\u5b50\u8df3\u8dc3\u4fee\u590d\uff0c\u800c\u53e6\u4e00\u79cd\u5219\u4e0d\u9002\u7528\u3002.<\/p>\n\n\n\n<h2 id=\"is-my-dmd-mutation-amenable-to-exon-45-skipping\" class=\"wp-block-heading\">\u6211\u7684DMD\u57fa\u56e0\u7a81\u53d8\u662f\u5426\u9002\u5408\u8fdb\u884c\u5916\u663e\u5b5045\u8df3\u8dc3\u624b\u672f\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5bb6\u5c5e\u7ecf\u5e38\u4f1a\u95ee\uff1a\u201c\u6211\u7684 DMD \u57fa\u56e0\u7a81\u53d8\u662f\u5426\u9002\u5408\u8fdb\u884c\u5916\u663e\u5b50 45 \u8df3\u8dc3\u624b\u672f\uff1f\u201d\u7b54\u6848\u9700\u8981\u67e5\u770b\u7cbe\u786e\u7684\u57fa\u56e0\u8bca\u65ad\u7ed3\u679c\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u7b2c\u4e00\u6b65\u662f\u83b7\u53d6\u5b8c\u6574\u7684DMD\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u3002\u8be5\u62a5\u544a\u5e94\u660e\u786e\u6307\u51fa\u7a81\u53d8\u662f\u7f3a\u5931\u3001\u91cd\u590d\u3001\u5c0f\u5e8f\u5217\u53d8\u5f02\u8fd8\u662f\u5176\u4ed6\u7c7b\u578b\u7684\u57fa\u56e0\u6539\u53d8\u3002\u5982\u679c\u662f\u7f3a\u5931\u7a81\u53d8\uff0c\u7cbe\u786e\u7684\u5916\u663e\u5b50\u8fb9\u754c\u5c24\u4e3a\u91cd\u8981\u3002\u4e86\u89e3\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/dmd-genetic-testing\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD\u57fa\u56e0\u68c0\u6d4b<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f8b\u5982\uff0c\u201c\u5916\u663e\u5b5046\u7f3a\u5931\u201d\u548c\u201c\u5916\u663e\u5b5046-49\u7f3a\u5931\u201d\u5e76\u975e\u7b49\u4ef7\u7684\u63cf\u8ff0\u3002\u540e\u8005\u63d0\u4f9b\u4e86\u5173\u4e8e\u7a81\u53d8\u7ed3\u6784\u53ca\u5176\u9884\u6d4b\u7684\u9605\u8bfb\u6846\u540e\u679c\u7684\u66f4\u591a\u4fe1\u606f\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4e13\u5bb6\u8fd8\u5e94\u786e\u8ba4\u7b2c 45 \u53f7\u5916\u663e\u5b50\u672c\u8eab\u662f\u5426\u5b58\u5728\u3002\u4e34\u5e8a\u8d44\u6599\u7279\u522b\u5f3a\u8c03\uff0cDMD \u57fa\u56e0\u4e2d\u5fc5\u987b\u4fdd\u7559\u7b2c 45 \u53f7\u5916\u663e\u5b50\uff0c\u624d\u80fd\u8fdb\u884c\u7b2c 45 \u53f7\u5916\u663e\u5b50\u8df3\u8dc3\u624b\u672f\u3002\u7acb\u5373\u4e86\u89e3\u66f4\u591a\uff1a\u00a0<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><\/p>\n\n\n\n<h2 id=\"exon-45-skipping-treatment-casimersen\" class=\"wp-block-heading\">\u5916\u663e\u5b5045\u8df3\u8dc3\u6cbb\u7597\uff1a\u5361\u897f\u9ed8\u68ee<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5361\u897f\u7f8e\u5766\uff08casimersen\uff09\u662f\u76ee\u524d\u6700\u77e5\u540d\u768445\u53f7\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u4e4b\u4e00\uff0c\u5728\u7f8e\u56fd\u4ee5AMONDYS 45\u7684\u5546\u54c1\u540d\u4e0a\u5e02\u3002\u7f8e\u56fd\u98df\u54c1\u836f\u54c1\u76d1\u7763\u7ba1\u7406\u5c40\uff08FDA\uff09\u4e8e2021\u5e74\u6279\u51c6\u5361\u897f\u7f8e\u5766\u7528\u4e8e\u6cbb\u7597\u5df2\u786e\u8bca\u7684\u3001\u9002\u5408\u8fdb\u884c45\u53f7\u5916\u663e\u5b50\u8df3\u8dc3\u7684\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u60a3\u8005\u3002\u8be5\u6279\u51c6\u662f\u57fa\u4e8e\u9aa8\u9abc\u808c\u4e2d\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u751f\u6210\u589e\u52a0\u8fd9\u4e00\u7ed3\u679c\uff0c\u5e76\u9075\u5faa\u52a0\u901f\u5ba1\u6279\u7a0b\u5e8f\u3002\u6301\u7eed\u6279\u51c6\u7684\u524d\u63d0\u662f\u4e34\u5e8a\u7597\u6548\u7684\u9a8c\u8bc1\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5361\u897f\u9ed8\u68ee\u662f\u4e00\u79cd\u53cd\u4e49\u5be1\u6838\u82f7\u9178\uff0c\u53ef\u4e0e\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u524d\u4f53mRNA\u7684\u7b2c45\u53f7\u5916\u663e\u5b50\u7ed3\u5408\u3002\u901a\u8fc7\u4fc3\u8fdb\u7b2c45\u53f7\u5916\u663e\u5b50\u7684\u6392\u9664\uff0c\u8be5\u7597\u6cd5\u65e8\u5728\u4f7f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5185\u90e8\u622a\u77ed\u540e\u80fd\u591f\u4ea7\u751f\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4e34\u5e8a\u7814\u7a76\u8868\u660e\uff0c\u63a5\u53d7\u6cbb\u7597\u7684\u60a3\u8005\u4e2d\uff0c\u5916\u663e\u5b5045\u8df3\u8dc3\u548c\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u8868\u8fbe\u5747\u6709\u6240\u589e\u52a0\u3002\u4e00\u9879\u968f\u673a1\/2\u671f\u7814\u7a76\u8fd8\u8bc4\u4f30\u4e86\u5361\u897f\u7f8e\u751f\u5728\u9002\u5408\u63a5\u53d7\u5916\u663e\u5b5045\u8df3\u8dc3\u6cbb\u7597\u7684\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u60a3\u8005\u4e2d\u7684\u5b89\u5168\u6027\u3001\u8010\u53d7\u6027\u548c\u836f\u4ee3\u52a8\u529b\u5b66\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u7136\u800c\uff0c\u5bb6\u957f\u4eec\u5e94\u8be5\u8bb0\u4f4f\uff0c\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u663e\u793a\u9002\u5408\u63a5\u53d7\u6cbb\u7597\u5e76\u4e0d\u610f\u5473\u7740\u67d0\u79cd\u6cbb\u7597\u5728\u6bcf\u4e2a\u56fd\u5bb6\u90fd\u81ea\u52a8\u9002\u7528\u3001\u53ef\u7528\u3001\u83b7\u5f97\u6279\u51c6\u6216\u62a5\u9500\u3002\u6cbb\u7597\u65b9\u6848\u7684\u5236\u5b9a\u9700\u8981\u8003\u8651\u5b69\u5b50\u7684\u4e34\u5e8a\u72b6\u51b5\u3001\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u3001\u5f53\u5730\u76d1\u7ba1\u89c4\u5b9a\u3001\u533b\u7597\u6307\u5bfc\u4ee5\u53ca\u533b\u7597\u8d44\u6e90\u7684\u53ef\u53ca\u6027\u3002\u4e86\u89e3\u66f4\u591a\uff1a\u00a0<a href=\"https:\/\/dmdwarrior.com\/clinical-trials\/active-studies\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u6b63\u5728\u8fdb\u884c\u7684DMD\u4e34\u5e8a\u7814\u7a76<\/a><\/p>\n\n\n\n<h2 id=\"exon-45-skipping-is-not-the-same-for-every-patient\" class=\"wp-block-heading\">\u5916\u663e\u5b5045\u8df3\u8dc3\u5bf9\u6bcf\u4f4d\u60a3\u8005\u7684\u5f71\u54cd\u5e76\u4e0d\u76f8\u540c\u3002<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u672f\u8bed\u201c\u53ef\u8fdb\u884c\u5916\u663e\u5b50 45 \u8df3\u8dc3\u7684\u7f3a\u5931\u201d\u63cf\u8ff0\u7684\u662f\u4e00\u79cd\u9057\u4f20\u673a\u4f1a\uff0c\u800c\u4e0d\u662f\u4e34\u5e8a\u7597\u6548\u7684\u4fdd\u8bc1\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u662f\u6839\u636e\u7279\u5b9a\u7684RNA\u5e8f\u5217\u548c\u7a81\u53d8\u7ed3\u6784\u8bbe\u8ba1\u7684\u3002\u7531\u6b64\u4ea7\u751f\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e5f\u6bd4\u5168\u957f\u86cb\u767d\u77ed\u3002\u7814\u7a76\u8868\u660e\uff0c\u57fa\u56e0\u578b\u3001\u7f3a\u5931\u7ed3\u6784\u4ee5\u53ca\u7531\u6b64\u4ea7\u751f\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u7279\u6027\u4f1a\u5f71\u54cd\u9884\u671f\u7684\u751f\u7269\u5b66\u548c\u4e34\u5e8a\u540e\u679c\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4e00\u9879\u9488\u5bf9\u5916\u663e\u5b50\u8df3\u8dc3\u9002\u5e94\u6027\u7a81\u53d8\u548c\u5916\u663e\u5b50\u8df3\u8dc3\u7b49\u6548\u7a81\u53d8\u7684\u5927\u578b\u835f\u8403\u5206\u6790\u53d1\u73b0\uff0c\u9605\u8bfb\u6846\u5206\u6790\u65b9\u6cd5\u867d\u7136\u6709\u7528\uff0c\u4f46\u5e76\u975e\u4e34\u5e8a\u8868\u578b\u7684\u5b8c\u7f8e\u9884\u6d4b\u6307\u6807\u3002\u4f5c\u8005\u8fd8\u5f3a\u8c03\u4e86\u4e0d\u540c\u7f3a\u5931\u6a21\u5f0f\u4e4b\u95f4\u7684\u5dee\u5f02\uff0c\u4ee5\u53ca\u8c28\u614e\u89e3\u8bfb\u57fa\u56e0\u578b-\u8868\u578b\u5173\u7cfb\u7684\u91cd\u8981\u6027\u3002.<\/p>\n\n\n\n<h2 id=\"how-to-check-whether-a-dmd-deletion-is-exon-45-skip-amenable\" class=\"wp-block-heading\">\u5982\u4f55\u5224\u65adDMD\u7f3a\u5931\u662f\u5426\u9002\u5408\u8fdb\u884c\u5916\u663e\u5b5045\u8df3\u8dc3\u624b\u672f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5bb6\u5ead\u5e94\u8be5\u4ece\u5b69\u5b50\u786e\u8bca\u7684\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u5f00\u59cb\uff0c\u800c\u4e0d\u4ec5\u4ec5\u662f\u7591\u4f3c\u7a81\u53d8\u7684\u540d\u79f0\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5982\u679c\u62a5\u544a\u4e2d\u5305\u542b\u7f3a\u5931\uff0c\u8bf7\u786e\u5b9a\u7b2c\u4e00\u4e2a\u548c\u6700\u540e\u4e00\u4e2a\u7f3a\u5931\u7684\u5916\u663e\u5b50\u3002\u7136\u540e\u786e\u5b9a\u8be5\u7f3a\u5931\u662f\u5426\u51fa\u73b0\u5728\u5df2\u77e5\u7684\u7b2c45\u53f7\u5916\u663e\u5b50\u8df3\u8dc3\u53c2\u8003\u5217\u8868\u4e2d\u3002\u6700\u540e\uff0c\u8bf7\u4e00\u4f4d\u7ecf\u9a8c\u4e30\u5bcc\u7684\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u795e\u7ecf\u79d1\u533b\u751f\u6216\u9057\u4f20\u54a8\u8be2\u5e08\u5ba1\u6838\u7ed3\u679c\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMD \u7a81\u53d8\u6570\u636e\u5e93\u6216\u5916\u663e\u5b50\u8df3\u8dc3\u5de5\u5177\u53ef\u7528\u4e8e\u6559\u80b2\u76ee\u7684\uff0c\u4f46\u5728\u7ebf\u5de5\u5177\u4e0d\u5e94\u53d6\u4ee3\u5bf9\u57fa\u56e0\u68c0\u6d4b\u7684\u4e13\u4e1a\u89e3\u8bfb\u3002.<\/p>\n\n\n\n<h2 id=\"why-accurate-genetic-testing-matters\" class=\"wp-block-heading\">\u4e3a\u4ec0\u4e48\u51c6\u786e\u7684\u57fa\u56e0\u68c0\u6d4b\u81f3\u5173\u91cd\u8981<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u57fa\u56e0\u68c0\u6d4b\u5bf9\u4e8e\u786e\u5b9a\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7684\u7279\u5f02\u6027\u7a81\u53d8\u6cbb\u7597\u65b9\u6848\u81f3\u5173\u91cd\u8981\u3002\u4e86\u89e3\u5177\u4f53\u7684\u7a81\u53d8\u7c7b\u578b\u6709\u52a9\u4e8e\u4e34\u5e8a\u533b\u751f\u8bc4\u4f30\u60a3\u8005\u662f\u5426\u9002\u5408\u63a5\u53d7\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\uff0c\u5bf9\u4e8e\u4e34\u5e8a\u8bd5\u9a8c\u7b5b\u9009\u548c\u9057\u4f20\u54a8\u8be2\u4e5f\u5341\u5206\u91cd\u8981\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u56e0\u6b64\uff0c\u5bf9\u4e8e\u5bb6\u5ead\u800c\u8a00\uff0c\u6700\u6709\u7528\u7684\u95ee\u9898\u4e0d\u4ec5\u4ec5\u662f\u201c\u6211\u7684\u5b69\u5b50\u662f\u5426\u6709\u57fa\u56e0\u7f3a\u5931\uff1f\u201d\uff0c\u800c\u662f\uff1a<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u201c\u7a76\u7adf\u662f\u4ec0\u4e48\u7c7b\u578b\u7684\u7f3a\u5931\uff1f\u5b83\u662f\u5426\u4f1a\u7834\u574f\u9605\u8bfb\u6846\uff1f\u5916\u663e\u5b50 45 \u8df3\u8dc3\u662f\u5426\u6709\u53ef\u80fd\u6062\u590d\u8be5\u9605\u8bfb\u6846\uff1f\u201d<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u7406\u89e3\u4e86\u8fd9\u79cd\u533a\u522b\uff0c\u53ef\u4ee5\u5c06\u590d\u6742\u7684\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u8f6c\u5316\u4e3a\u66f4\u5bb9\u6613\u4e0e\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 (DMD) \u4e13\u5bb6\u8ba8\u8bba\u7684\u4fe1\u606f\u3002.<\/p>\n\n\n\n<h2 id=\"frequently-asked-questions-about-exon-45-skipping\" class=\"wp-block-heading\">\u5173\u4e8e\u5916\u663e\u5b5045\u8df3\u8dc3\u7684\u5e38\u89c1\u95ee\u9898<\/h2>\n\n\n<div id=\"rank-math-faq\" class=\"rank-math-block\">\n<div class=\"rank-math-list\">\n<div id=\"faq-question-1786370195246\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u54ea\u4e9b\u7f3a\u5931\u53ef\u4ee5\u901a\u8fc7\u8df3\u8fc7\u7b2c 45 \u5916\u663e\u5b50\u8fdb\u884c\u4fee\u590d\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u7406\u8bba\u4e0a\u5e38\u89c1\u7684\u53ef\u6cbb\u7597\u7f3a\u5931\u5305\u62ec 7-44\u300112-44\u300118-44\u300144\u300146\u300146-47\u300146-48\u300146-49\u300146-51\u300146-53\u300146-55\u300146-57\u300146-59\u300146-60\u300146-67\u300146-69\u300146-75 \u548c 46-78\u3002\u4e2a\u4eba\u662f\u5426\u7b26\u5408\u6cbb\u7597\u6761\u4ef6\u5fc5\u987b\u901a\u8fc7\u5b8c\u6574\u7684\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u6765\u786e\u8ba4\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1786370214456\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u5916\u663e\u5b50 46 \u7f3a\u5931\u662f\u5426\u53ef\u4ee5\u901a\u8fc7\u8df3\u8fc7\u5916\u663e\u5b50 45 \u6765\u5b9e\u73b0\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u5728\u5e38\u89c1\u7684\u7406\u8bba\u4e0a\u53ef\u8fdb\u884c\u5916\u663e\u5b5045\u8df3\u8dc3\u7684\u7a81\u53d8\u5217\u8868\u4e2d\uff0c\u4ec5\u62a5\u544a\u4e3a\u201c\u5916\u663e\u5b5046\u7f3a\u5931\u201d\u7684\u7f3a\u5931\u7a81\u53d8\u5c61\u89c1\u4e0d\u9c9c\u3002\u7136\u800c\uff0c\u5b8c\u6574\u7684\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u9700\u8981\u4ed4\u7ec6\u5ba1\u67e5\uff0c\u56e0\u4e3a\u7f3a\u5931\u8fb9\u754c\u548c\u9605\u8bfb\u6846\u6539\u53d8\u7684\u5f71\u54cd\u81f3\u5173\u91cd\u8981\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1786370222218\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u5916\u663e\u5b50 46-49 \u7f3a\u5931\u662f\u5426\u53ef\u4ee5\u901a\u8fc7\u5916\u663e\u5b50 45 \u8df3\u8dc3\u8fdb\u884c\u4fee\u590d\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u662f\u7684\u3002\u5916\u663e\u5b50 46-49 \u7f3a\u5931\u662f\u4e00\u4e2a\u5e38\u89c1\u7684\u79fb\u7801\u7f3a\u5931\u7684\u4f8b\u5b50\uff0c\u53ef\u4ee5\u901a\u8fc7\u8df3\u8fc7\u5916\u663e\u5b50 45 \u6765\u633d\u6551\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1786370242273\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u9488\u5bf9\u5916\u663e\u5b5045\u8df3\u8dc3\u7a81\u53d8\uff0c\u6709\u54ea\u4e9b\u6cbb\u7597\u65b9\u6cd5\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>Casimersen\uff08AMONDYS 45\uff09\u662f\u4e00\u79cd\u83b7\u5f97FDA\u6279\u51c6\u7684\u53cd\u4e49\u5be1\u6838\u82f7\u9178\u836f\u7269\uff0c\u7528\u4e8e\u6cbb\u7597\u7f8e\u56fd\u786e\u8bca\u7684DMD\u57fa\u56e0\u7a81\u53d8\u4e14\u9002\u5408\u8fdb\u884c45\u53f7\u5916\u663e\u5b50\u8df3\u8dc3\u6cbb\u7597\u7684\u60a3\u8005\u3002\u8be5\u836f\u7269\u7684\u5ba1\u6279\u4ecd\u9075\u5faa\u52a0\u901f\u5ba1\u6279\u7a0b\u5e8f\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1786370250501\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u53ef\u884c\u7a81\u53d8\u662f\u5426\u80fd\u4fdd\u8bc1\u5916\u663e\u5b50\u8df3\u8dc3\u6210\u529f\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u4e0d\u3002\u201c\u53ef\u6cbb\u7597\u201d\u6307\u7684\u662f\u4e00\u79cd\u57fa\u56e0\u7a81\u53d8\uff0c\u5916\u663e\u5b50\u8df3\u8dc3\u662f\u4e00\u79cd\u6f5c\u5728\u7684\u6cbb\u7597\u7b56\u7565\u3002\u5b83\u5e76\u4e0d\u4fdd\u8bc1\u7279\u5b9a\u7684\u4e34\u5e8a\u53cd\u5e94\u6216\u7ed3\u679c\u3002\u6cbb\u7597\u65b9\u6848\u5e94\u7531\u7ecf\u9a8c\u4e30\u5bcc\u7684\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u4e13\u79d1\u533b\u751f\u5236\u5b9a\u3002.<\/p>\n\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n\n\n<h2 id=\"conclusion\" class=\"wp-block-heading\">\u7ed3\u8bba<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5916\u663e\u5b50 45 \u8df3\u8dc3\u662f\u9488\u5bf9\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u60a3\u8005\u7684\u4e00\u79cd\u9776\u5411\u6cbb\u7597\u7b56\u7565\uff0c\u7279\u522b\u662f\u9488\u5bf9\u90a3\u4e9b\u5916\u663e\u5b50 7-44\u300112-44\u300118-44\u300144\u300146\u300146-47\u300146-48\u300146-49\u300146-51\u300146-53\u300146-55\u300146-57\u300146-59\u300146-60\u300146-67\u300146-69\u300146-75 \u6216 46-78 \u7f3a\u5931\u7684\u60a3\u8005\u3002.<\/strong> \u901a\u8fc7\u8df3\u8fc7\u7b2c45\u53f7\u5916\u663e\u5b50\uff0c\u53ef\u4ee5\u6062\u590d\u57fa\u56e0\u7684\u9605\u8bfb\u6846\uff0c\u4ece\u800c\u4ea7\u751f\u622a\u77ed\u4f46\u4ecd\u5177\u6709\u529f\u80fd\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u3002\u8fd9\u79cd\u65b9\u6cd5\u6709\u671b\u663e\u8457\u6539\u5584\u67d0\u4e9b\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u60a3\u8005\u7684\u751f\u6d3b\u8d28\u91cf\u5e76\u5ef6\u7f13\u75be\u75c5\u8fdb\u5c55\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5c3d\u7ba1\u5916\u663e\u5b50\u8df3\u8dc3\u5177\u6709\u6f5c\u529b\uff0c\u4f46\u5b83\u5e76\u4e0d\u662f\u4e07\u80fd\u7684\u89e3\u51b3\u65b9\u6848\u3002\u5176\u6709\u6548\u6027\u53d6\u51b3\u4e8e\u7a81\u53d8\u7c7b\u578b\u548c\u5c06\u6cbb\u7597\u6027\u5be1\u6838\u82f7\u9178\u9012\u9001\u81f3\u76ee\u6807\u7ec4\u7ec7\u7684\u80fd\u529b\u3002\u968f\u7740\u7814\u7a76\u7684\u8fdb\u5c55\u548c\u66f4\u591a\u4e34\u5e8a\u8bd5\u9a8c\u7684\u5f00\u5c55\uff0c\u5916\u663e\u5b50\u8df3\u8dc3\u53ef\u80fd\u6210\u4e3a\u6cbb\u7597 DMD \u7684\u6cbb\u7597\u624b\u6bb5\u4e2d\u5fc5\u4e0d\u53ef\u5c11\u7684\u4e00\u90e8\u5206\uff0c\u5c24\u5176\u662f\u5bf9\u4e8e\u7a81\u53d8\u9002\u5408\u8fdb\u884c\u5916\u663e\u5b50 45 \u8df3\u8dc3\u7684\u60a3\u8005\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u9605\u8bfb\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/next-generation-exon-skipping-therapies-for-duchenne-muscular-dystrophy\/\" target=\"_blank\" data-type=\"post\" data-id=\"2468\" rel=\"noreferrer noopener\">\u4e0b\u4e00\u4ee3\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>As of recent years, exon skipping has emerged as a promising therapeutic strategy for certain types of mutations in the dystrophin gene. Exon 45 skipping is one of the most investigated strategies for addressing specific mutations in DMD. So, do you wonder the mutations amenable to exon 45 skipping? This approach aims to skip a [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":3342,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[317,318,319,77,178],"class_list":["post-3338","post","type-post","status-publish","format-standard","has-post-thumbnail","category-dmd","tag-exon-45","tag-exon-45-skipping","tag-exon-45-skipping-therapy","tag-exon-skipping","tag-exon-skipping-therapies"],"subtitle":"\u5bf9\u4e8e\u90e8\u5206\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 (DMD) \u60a3\u8005\u800c\u8a00\uff0c\u53ef\u901a\u8fc7\u5916\u663e\u5b50 45 \u8df3\u8dc3\u7597\u6cd5\u6cbb\u7597\u7684\u7f3a\u5931\u7a81\u53d8\u53ef\u80fd\u662f\u4e00\u79cd\u6f5c\u5728\u7684\u6cbb\u7597\u9014\u5f84\u3002\u4f46\u54ea\u4e9b\u7a81\u53d8\u7b26\u5408\u6761\u4ef6\u5462\uff1f\u4e86\u89e3\u54ea\u4e9b DMD \u7f3a\u5931\u7a81\u53d8\u53ef\u80fd\u5bf9\u5916\u663e\u5b50 45 \u8df3\u8dc3\u7597\u6cd5\u6709\u6548\uff0c\u4ee5\u53ca\u5982\u4f55\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u8bc6\u522b\u5b83\u4eec\u3002.","_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts\/3338","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=3338"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts\/3338\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/media\/3342"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/media?parent=3338"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/categories?post=3338"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/tags?post=3338"}],"curies":[{"name":"\u53ef\u6e7f\u6027\u7c89\u5242","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}