{"id":59531,"date":"2023-08-14T11:03:13","date_gmt":"2023-08-14T02:03:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=59531"},"modified":"2026-03-04T17:30:58","modified_gmt":"2026-03-04T08:30:58","slug":"duchenne-muscular-dystrophy","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/duchenne-muscular-dystrophy\/","title":{"rendered":"\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Duchenne Muscular Dystrophy, DMD\uff09\u306f\u3001X\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3092\u793a\u3059\u9032\u884c\u6027\u306e\u7b4b\u75be\u60a3\u3067\u3042\u308a\u3001\u4e3b\u306b\u7537\u5150\u306b\u767a\u75c7\u3057\u307e\u3059\u3002DMD\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u7b4b\u7d30\u80de\u819c\u306e\u5b89\u5b9a\u6027\u3092\u7dad\u6301\u3059\u308b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u304c\u6b20\u640d\u3057\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u55aa\u5931\u304c\u9032\u884c\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001DMD\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6700\u65b0\u306e\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3001\u60a3\u8005\u3084\u4fdd\u8b77\u8005\u304c\u77e5\u3063\u3066\u304a\u304f\u3079\u304d\u30dd\u30a4\u30f3\u30c8\u3092\u5206\u304b\u308a\u3084\u3059\u304f\u307e\u3068\u3081\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>DMD\uff5cDuchenne Muscular Dystrophy, X-linked<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Duchenne Muscular Dystrophy, DMD\uff09\u306f\u3001X\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3092\u793a\u3059\u907a\u4f1d\u6027\u7b4b\u75be\u60a3\u3067\u3042\u308a\u3001\u4e3b\u306b\u7537\u6027\u306b\u767a\u75c7\u3059\u308b\u3002DMD\u306f\u3001\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\uff08DMD\u907a\u4f1d\u5b50\uff09\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u306f\u7b4b\u7d30\u80de\u819c\u306e\u5b89\u5b9a\u6027\u3092\u7dad\u6301\u3059\u308b\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u7b4b\u7dda\u7dad\u306e\u58ca\u6b7b\u3068\u518d\u751f\u304c\u7e70\u308a\u8fd4\u3055\u308c\u308b\u7d50\u679c\u3001\u7b4b\u529b\u4f4e\u4e0b\u304c\u9032\u884c\u3059\u308b\u3002<\/p>\n\n\n\n<p>DMD\u306f\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3057\u30013\u301c5\u6b73\u9803\u306b\u6b69\u884c\u56f0\u96e3\u3084\u8ee2\u5012\u3057\u3084\u3059\u3055\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308b\u3002\u9032\u884c\u6027\u306e\u7b4b\u840e\u7e2e\u3068\u7b4b\u529b\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3057\u3001\u591a\u304f\u306e\u60a3\u8005\u306f12\u6b73\u9803\u307e\u3067\u306b\u6b69\u884c\u80fd\u529b\u3092\u55aa\u5931\u3059\u308b\u3002\u3055\u3089\u306b\u3001\u9032\u884c\u6027\u306e\u5fc3\u7b4b\u75c7\u3084\u547c\u5438\u6a5f\u80fd\u4f4e\u4e0b\u3092\u5408\u4f75\u3057\u3001\u6cbb\u7642\u3092\u884c\u308f\u306a\u3051\u308c\u307020\u301c30\u6b73\u4ee3\u3067\u751f\u547d\u3092\u8105\u304b\u3059\u5408\u4f75\u75c7\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>DMD\u306f\u6700\u3082\u4e00\u822c\u7684\u306a\u907a\u4f1d\u6027\u7b4b\u75be\u60a3\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u51fa\u751f\u7537\u51503,500\u301c5,000\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3002\u5973\u6027\u306f\u901a\u5e38\u7121\u75c7\u5019\u6027\u306e\u907a\u4f1d\u5b50\u4fdd\u56e0\u8005\u3067\u3042\u308b\u304c\u3001\u7d048\u301c20%\u306e\u5973\u6027\u4fdd\u56e0\u8005\u306b\u306f\u8efd\u5ea6\u306e\u7b4b\u529b\u4f4e\u4e0b\u3084\u5fc3\u7b4b\u75c7\u306e\u75c7\u72b6\u304c\u8a8d\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\u306f\u30d2\u30c8\u30b2\u30ce\u30e0\u306e\u4e2d\u3067\u6700\u5927\u7d1a\u306e\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u7d042.5Mb\u306e\u9818\u57df\u306b79\u500b\u306e\u30a8\u30af\u30bd\u30f3\u3092\u6301\u3064\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u300170\u301c80%\u304c\u30a8\u30af\u30bd\u30f3\u306e\u6b20\u5931\u3084\u91cd\u8907\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u6b8b\u308a\u306e20\u301c30%\u306f\u70b9\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>DMD\u306f\u3001\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5b8c\u5168\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4e0d\u5168\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u3002\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u306f\u7d30\u80de\u9aa8\u683c\u3068\u7d30\u80de\u819c\u3092\u7d50\u3073\u3064\u3051\u308b\u5f79\u5272\u3092\u679c\u305f\u3057\u3001\u7b4b\u7d30\u80de\u306e\u69cb\u9020\u7684\u5b89\u5b9a\u6027\u3092\u7dad\u6301\u3059\u308b\u3002\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u7b4b\u53ce\u7e2e\u6642\u306b\u7d30\u80de\u819c\u304c\u640d\u50b7\u3092\u53d7\u3051\u3084\u3059\u304f\u306a\u308a\u3001\u7b4b\u7d30\u80de\u306e\u58ca\u6b7b\u3068\u708e\u75c7\u304c\u7e70\u308a\u8fd4\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u6700\u7d42\u7684\u306b\u7b4b\u7d44\u7e54\u304c\u7dda\u7dad\u5316\u304a\u3088\u3073\u8102\u80aa\u7d44\u7e54\u3078\u3068\u7f6e\u63db\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>X\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3042\u308b\u305f\u3081\u3001\u901a\u5e38\u3001\u7537\u6027\u304c\u767a\u75c7\u3057\u3001\u5973\u6027\u306f\u4fdd\u56e0\u8005\u3068\u306a\u308b\u3002\u3057\u304b\u3057\u3001X\u67d3\u8272\u4f53\u306e\u7570\u5e38\uff08X;\u5e38\u67d3\u8272\u4f53\u8ee2\u5ea7\u3084\u4e0d\u5747\u8861\u306aX\u67d3\u8272\u4f53\u4e0d\u6d3b\u6027\u5316\u306a\u3069\uff09\u304c\u95a2\u4e0e\u3059\u308b\u5834\u5408\u3001\u5973\u6027\u3082\u75c7\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-greentreelabs-post-snippets-block\">DMD\u907a\u4f1d\u5b50\u3067\u3042\u308c\u3070\u5f53\u9662\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance FM+\u30d7\u30e9\u30f3<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance GM+\u30d7\u30e9\u30f3<\/a>\u3067\u691c\u67fb\u304c\u53ef\u80fd\u3068\u306a\u3063\u3066\u304a\u308a\u307e\u3059\u3002<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>DMD\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b<\/strong>\uff1a3\u301c5\u6b73\u9803\u306b\u7b4b\u529b\u4f4e\u4e0b\u304c\u9855\u8457\u306b\u306a\u308a\u3001\u6b69\u884c\u56f0\u96e3\u3084\u8ee2\u5012\u306e\u5897\u52a0\u304c\u307f\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u6b69\u884c\u30d1\u30bf\u30fc\u30f3<\/strong>\uff1a\u52d5\u63fa\u6b69\u884c\uff08\u30c8\u30ec\u30f3\u30c7\u30ec\u30f3\u30d6\u30eb\u30b0\u6b69\u884c\uff09\u3001\u3064\u307e\u5148\u6b69\u884c\u3001Gower\u5fb4\u5019\uff08\u5e8a\u304b\u3089\u7acb\u3061\u4e0a\u304c\u308b\u969b\u306b\u624b\u3092\u4f7f\u3063\u3066\u592a\u3082\u3082\u3092\u62bc\u3057\u4e0a\u3052\u308b\u52d5\u4f5c\uff09\u304c\u307f\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u840e\u7e2e\u3068\u4eee\u6027\u80a5\u5927<\/strong>\uff1a\u7279\u306b\u8153\u8179\u7b4b\u304c\u507d\u6027\u80a5\u5927\u3092\u5448\u3057\u3001\u4e0a\u80a2\u304a\u3088\u3073\u4e0b\u80a2\u306e\u7b4b\u840e\u7e2e\u304c\u9032\u884c\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u62d8\u7e2e\u304a\u3088\u3073\u810a\u67f1\u5074\u5f2f\u75c7<\/strong>\uff1a\u6b69\u884c\u4e0d\u80fd\u306b\u306a\u308b\u524d\u5f8c\u304b\u3089\u62d8\u7e2e\u304c\u9032\u884c\u3057\u3001\u810a\u67f1\u5909\u5f62\u3082\u898b\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u547c\u5438\u5668\u969c\u5bb3<\/strong>\uff1a\u9032\u884c\u6027\u306e\u547c\u5438\u7b4b\u9ebb\u75fa\u306b\u3088\u308a\u547c\u5438\u4e0d\u5168\u304c\u751f\u3058\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u7b4b\u75c7<\/strong>\uff1a\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\u304c\u591a\u304f\u306e\u60a3\u8005\u3067\u767a\u75c7\u3057\u3001\u4e0d\u6574\u8108\u3084\u5fc3\u4e0d\u5168\u306e\u539f\u56e0\u3068\u306a\u308b\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/strong>\uff1a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>DMD\u306e\u8a3a\u65ad\u306f\u4ee5\u4e0b\u306e\u691c\u67fb\u306b\u57fa\u3065\u3044\u3066\u884c\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6e05\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u6e2c\u5b9a<\/strong>\uff1a\u6975\u3081\u3066\u9ad8\u5024\uff08\u6b63\u5e38\u4e0a\u9650\u306e10\u301c20\u500d\uff09\u3092\u793a\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aMLPA\u3084\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3092\u7528\u3044\u3066DMD\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u540c\u5b9a\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u751f\u691c<\/strong>\uff1a\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u514d\u75ab\u67d3\u8272\u306b\u3088\u308a\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u306e\u5b8c\u5168\u6b20\u640d\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u96fb\u56f3\uff08EMG\uff09<\/strong>\uff1a\u30df\u30aa\u30d1\u30c1\u30fc\u578b\u5909\u5316\u3092\u793a\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u30a8\u30b3\u30fc\u30fb\u5fc3\u96fb\u56f3\uff08ECG\uff09<\/strong>\uff1a\u5fc3\u7b4b\u75c7\u306e\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li><strong>\u547c\u5438\u6a5f\u80fd\u691c\u67fb<\/strong>\uff1a\u80ba\u6d3b\u91cf\u306e\u4f4e\u4e0b\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>DMD\u306e\u6839\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044\u304c\u3001\u4ee5\u4e0b\u306e\u6cbb\u7642\u304c\u9032\u884c\u3092\u9045\u3089\u305b\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b9\u30c6\u30ed\u30a4\u30c9\u7642\u6cd5<\/strong>\uff1a\u30d7\u30ec\u30c9\u30cb\u30be\u30ed\u30f3\u3084\u30c7\u30d5\u30e9\u30b6\u30b3\u30eb\u30c8\u304c\u7b4b\u529b\u4f4e\u4e0b\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u8840\u7ba1\u7ba1\u7406<\/strong>\uff1aACE\u963b\u5bb3\u85ac\u3084\u03b2\u906e\u65ad\u85ac\u3092\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u547c\u5438\u7ba1\u7406<\/strong>\uff1a\u975e\u4fb5\u8972\u7684\u4eba\u5de5\u547c\u5438\u7ba1\u7406\uff08NIPPV\uff09\u3084\u591c\u9593\u63db\u6c17\u88dc\u52a9\u3092\u884c\u3046\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/strong>\uff1a\u95a2\u7bc0\u62d8\u7e2e\u4e88\u9632\u306e\u305f\u3081\u306e\u30b9\u30c8\u30ec\u30c3\u30c1\u3084\u904b\u52d5\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406<\/strong>\uff1a\u80a5\u6e80\u304a\u3088\u3073\u4f4e\u6804\u990a\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642<\/strong>\uff1a\u30a8\u30af\u30bd\u30f3\u30b9\u30ad\u30c3\u30d4\u30f3\u30b0\u7642\u6cd5\uff08\u30a8\u30c6\u30d7\u30ea\u30eb\u30bb\u30f3\u306a\u3069\uff09\u304c\u4e00\u90e8\u306eDMD\u60a3\u8005\u306b\u627f\u8a8d\u3055\u308c\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>DMD\u306e\u4e88\u5f8c\u306f\u6cbb\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u6539\u5584\u3057\u3066\u304d\u305f\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u306f20\u301c40\u6b73\u3067\u5fc3\u4e0d\u5168\u3084\u547c\u5438\u4e0d\u5168\u306b\u3088\u308a\u6b7b\u4ea1\u3059\u308b\u3002\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u5305\u62ec\u7684\u306a\u7ba1\u7406\u306b\u3088\u308a\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1161\/01.CIR.87.6.1854\">Towbin, J. A., Hejtmancik, J. F., Brink, P., Gelb, B., Zhu, X. M., Chamberlain, J. S., McCabe, E. R., &amp; Swift, M. (1993). X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (Dystrophin) gene at the Xp21 locus. <em>Circulation<\/em>, <em>87<\/em>(6), 1854\u20131865. https:\/\/doi.org\/10.1161\/01.CIR.87.6.1854<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00439-016-1666-6\">Viggiano, E., Ergoli, M., Picillo, E. <em>et al.<\/em> Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. <em>Hum Genet<\/em> <strong>135<\/strong>, 685\u2013698 (2016). https:\/\/doi.org\/10.1007\/s00439-016-1666-6<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/328166a0\">Brockdorff, N., Cross, G., Cavanna, J. <em>et al.<\/em> The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome. <em>Nature<\/em> <strong>328<\/strong>, 166\u2013168 (1987). https:\/\/doi.org\/10.1038\/328166a0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.jns.2013.09.036\">Giliberto, F., Radic, C. P., Luce, L., Ferreiro, V., De Brasi, C., &amp; Szijan, I. (2014). Symptomatic female carriers of Duchenne muscular dystrophy (Dmd): Genetic and clinical characterization. <em>Journal of the Neurological Sciences<\/em>, <em>336<\/em>(1\u20132), 36\u201341. https:\/\/doi.org\/10.1016\/j.jns.2013.09.036<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms232113076\">Sz\u0171cs, Z., Pinti, \u00c9., Haltrich, I., Sz\u00e9n, O. P., Nagy, T., Barta, E., M\u00e9hes, G., Bidiga, L., T\u00f6r\u00f6k, O., Ujfalusi, A., Koczok, K., &amp; Balogh, I. (2022). An ultra-rare manifestation of an x-linked recessive disorder: Duchenne muscular dystrophy in a female patient. <em>International Journal of Molecular Sciences<\/em>, <em>23<\/em>(21), 13076. https:\/\/doi.org\/10.3390\/ijms232113076<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK482346\/\">Venugopal V, Pavlakis S. Duchenne Muscular Dystrophy. [Updated 2023 Jul 10]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK482346\/<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc,DMD,\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc,\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3,DMD\u907a\u4f1d\u5b50,X\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d,\u7b4b\u529b\u4f4e\u4e0b,\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3,\u547c\u5438\u4e0d\u5168,\u5fc3\u7b4b\u75c7,\u30a8\u30af\u30bd\u30f3\u30b9\u30ad\u30c3\u30d4\u30f3\u30b0,\u30b9\u30c6\u30ed\u30a4\u30c9\u7642\u6cd5,\u907a\u4f1d\u5b50\u6cbb\u7642,\u8a3a\u65ad,\u6cbb\u7642\u6cd5<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-59531","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59531","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59531\/revisions"}],"predecessor-version":[{"id":125419,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59531\/revisions\/125419"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=59531"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}