{"id":61552,"date":"2023-09-01T12:56:11","date_gmt":"2023-09-01T03:56:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=61552"},"modified":"2026-05-08T13:43:57","modified_gmt":"2026-05-08T04:43:57","slug":"congenital-amyotrophic-syndrome-2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome-2\/","title":{"rendered":"\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4"},"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>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\uff08Congenital Myasthenic Syndrome, CMS\uff09\u306f\u3001\u795e\u7d4c\u7b4b\u63a5\u5408\u90e8\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u7279\u306b<strong>CHRNE\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong>\u304c\u539f\u56e0\u3068\u306a\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3001\u773c\u77bc\u4e0b\u5782\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u56a5\u4e0b\u56f0\u96e3\u306a\u3069\u306e\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001CHRNE\u95a2\u9023CMS\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\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>CHRNE\uff5cCongenital Myasthenic Syndrome (CHRNE-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\uff08Congenital Myasthenic Syndrome, CMS\uff09\u306f\u3001\u795e\u7d4c\u7b4b\u63a5\u5408\u90e8\uff08Neuromuscular Junction, NMJ\uff09\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u907a\u4f1d\u6027\u75be\u60a3\u7fa4\u3067\u3042\u308a\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u7b4b\u75b2\u52b4\u3068\u7b4b\u529b\u4f4e\u4e0b\u304c\u6319\u3052\u3089\u308c\u308b\u3002\u3053\u308c\u307e\u3067\u306b35\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304cCMS\u306e\u539f\u56e0\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u7279\u306b <strong>CHRNE<\/strong>\uff08\u30b3\u30ea\u30f3\u4f5c\u52d5\u6027\u30cb\u30b3\u30c1\u30f3\u53d7\u5bb9\u4f53\u03b5\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u907a\u4f1d\u5b50\uff09\u306e\u5909\u7570\u306f\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u308b\u3002CHRNE\u95a2\u9023CMS\u306f <strong>AChR\uff08\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u53d7\u5bb9\u4f53\uff09\u6b20\u640d\u578b<\/strong> \u306b\u5206\u985e\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u767a\u75c7\u306f\u51fa\u751f\u6642\u307e\u305f\u306f\u5e7c\u5150\u671f\u65e9\u671f\u304c\u591a\u304f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308b\u3002\u60a3\u8005\u306f\u773c\u77bc\u4e0b\u5782\uff08ptosis\uff09\u3001\u773c\u7403\u904b\u52d5\u969c\u5bb3\uff08ophthalmoparesis\uff09\u3001\u56a5\u4e0b\u56f0\u96e3\uff08dysphagia\uff09\u3001\u547c\u5438\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3092\u793a\u3057\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u9032\u884c\u6027\u306e\u5168\u8eab\u6027\u7b4b\u529b\u4f4e\u4e0b\u3092\u4f34\u3046\u3002\u907a\u4f1d\u7684\u306b\u5747\u4e00\u306a\u96c6\u56e3\u306b\u304a\u3044\u3066\u3082\u3001\u75be\u60a3\u306e\u8868\u73fe\u578b\u306b\u306f\u5927\u304d\u306a\u591a\u69d8\u6027\u304c\u8a8d\u3081\u3089\u308c\u3001\u907a\u4f1d\u7684\u4fee\u98fe\u56e0\u5b50\u306e\u95a2\u4e0e\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>CMS\u306f\u7a00\u306a\u75be\u60a3\u3068\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u6709\u75c5\u7387\u306f\u7814\u7a76\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u304c\u3001<strong>100\u4e07\u4eba\u3042\u305f\u308a9.2\uff5e22.2\u4eba<\/strong> \u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u6b27\u5dde\u3084\u30a4\u30f3\u30c9\u3001\u30d1\u30ad\u30b9\u30bf\u30f3\u306a\u3069\u306e\u7279\u5b9a\u306e\u5730\u57df\u3067\u306f <strong>CHRNE\u907a\u4f1d\u5b50\u5909\u7570<\/strong> \u306e\u983b\u5ea6\u304c\u7279\u306b\u9ad8\u3044\u3002\u4f8b\u3048\u3070\u3001\u30d6\u30eb\u30ac\u30ea\u30a2\u30fb\u30ed\u30de\u6c11\u65cf\u306b\u304a\u3044\u3066\u306f\u3001 <strong>c.1327delG\u5909\u7570<\/strong> \u304c\u30db\u30e2\u63a5\u5408\u578b\u3067\u8a8d\u3081\u3089\u308c\u308b\u60a3\u8005\u304c\u591a\u304f\u3001\u5275\u59cb\u8005\u52b9\u679c\uff08Founder Effect\uff09\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u30b9\u30da\u30a4\u30f3\u306eCMS\u60a3\u800564\u540d\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u3067\u306f\u300126.6%\u304cCHRNE\u5909\u7570\u3092\u6709\u3057\u3066\u3044\u305f\u3002\u30aa\u30fc\u30b9\u30c8\u30ea\u30a2\u306e\u60a3\u8005\u96c6\u56e3\u3067\u3082CHRNE\u5909\u7570\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3042\u3063\u305f\u3002\u3053\u308c\u3089\u306e\u7d50\u679c\u304b\u3089\u3001CHRNE\u5909\u7570\u304c\u4e16\u754c\u7684\u306bCMS\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>CHRNE\u907a\u4f1d\u5b50\u306f\u3001<strong>AChR\u306e\u03b5\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8<\/strong> \u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001AChR\u306e\u69cb\u6210\u8981\u7d20\u3068\u3057\u3066\u795e\u7d4c\u7b4b\u63a5\u5408\u90e8\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u3002CHRNE\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u03b5\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304c\u6b20\u640d\u3059\u308b\u3068\u3001AChR\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u3001\u795e\u7d4c\u7b4b\u4f1d\u9054\u304c\u52b9\u7387\u7684\u306b\u884c\u308f\u308c\u306a\u304f\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u4ee3\u8868\u7684\u306a\u5909\u7570\u306b\u306f\u4ee5\u4e0b\u304c\u3042\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>c.1327delG\u5909\u7570<\/strong>\uff1a\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u306b\u3088\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u6b20\u640d<\/li>\n\n\n\n<li><strong>c.1252-1267dup\u5909\u7570<\/strong>\uff1a\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u306b\u3088\u308bAChR\u6b20\u640d<\/li>\n\n\n\n<li><strong>c.1032+2_1032+3delinsGT\u5909\u7570<\/strong>\uff1a\u65b0\u898f\u5831\u544a\u3055\u308c\u305f\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570<\/li>\n<\/ul>\n\n\n\n<p>CHRNE\u5909\u7570\u306b\u3088\u308bAChR\u306e\u6b20\u640d\u306f\u3001\u80ce\u5150\u578b\u306e\u03b3\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff08CHRNG\uff09\u306e\u4e00\u6642\u7684\u306a\u767a\u73fe\u306b\u3088\u3063\u3066\u90e8\u5206\u7684\u306b\u88dc\u511f\u3055\u308c\u308b\u304c\u3001\u6210\u4eba\u578bAChR\u3078\u306e\u79fb\u884c\u304c\u6b63\u5e38\u306b\u884c\u308f\u308c\u305a\u3001\u75c7\u72b6\u304c\u767a\u73fe\u3059\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>CHRNE\u95a2\u9023CMS\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u591a\u69d8\u3067\u3042\u308a\u3001\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u8a8d\u3081\u3089\u308c\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u75c7\u72b6<\/strong>\uff1a\u773c\u77bc\u4e0b\u5782\uff08ptosis\uff09\u3001\u5916\u773c\u7b4b\u9ebb\u75fa\uff08ophthalmoparesis\uff09<\/li>\n\n\n\n<li><strong>\u56a5\u4e0b\u30fb\u767a\u8a71\u969c\u5bb3<\/strong>\uff1a\u56a5\u4e0b\u56f0\u96e3\uff08dysphagia\uff09\u3001\u69cb\u97f3\u969c\u5bb3<\/li>\n\n\n\n<li><strong>\u7b4b\u529b\u4f4e\u4e0b<\/strong>\uff1a\u8fd1\u4f4d\u304a\u3088\u3073\u9060\u4f4d\u7b4b\u306e\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li><strong>\u547c\u5438\u6a5f\u80fd\u4f4e\u4e0b<\/strong>\uff1a\u6a2a\u9694\u819c\u306e\u7b4b\u529b\u4f4e\u4e0b\u306b\u3088\u308b\u63db\u6c17\u969c\u5bb3<\/li>\n\n\n\n<li><strong>\u9032\u884c\u6027\u7b4b\u7121\u529b<\/strong>\uff1a\u4e73\u5150\u671f\u304b\u3089\u59cb\u307e\u308a\u3001\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u5b89\u5b9a\u307e\u305f\u306f\u9032\u884c\u3059\u308b<\/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>CMS\u306e\u8a3a\u65ad\u306b\u306f\u3001<strong>\u795e\u7d4c\u751f\u7406\u5b66\u7684\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u81e8\u5e8a\u8a55\u4fa1<\/strong> \u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3046\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53cd\u5fa9\u523a\u6fc0\u8a66\u9a13\uff08RNS\uff09<\/strong>\uff1a\u795e\u7d4c\u7b4b\u63a5\u5408\u90e8\u306e\u969c\u5bb3\u3092\u691c\u51fa<\/li>\n\n\n\n<li><strong>\u5358\u7dda\u7dad\u7b4b\u96fb\u56f3\uff08SFEMG\uff09<\/strong>\uff1aNMJ\u306e\u4f1d\u9054\u7570\u5e38\u3092\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\uff1aCHRNE\u5909\u7570\u3092\u540c\u5b9a\uff08\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3084Sanger\u6cd5\uff09<\/li>\n\n\n\n<li><strong>\u80ba\u6a5f\u80fd\u691c\u67fb\uff08FVC\u6e2c\u5b9a\uff09<\/strong>\uff1a\u547c\u5438\u7b4b\u306e\u5f71\u97ff\u3092\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n<p>CMS\u306f\u81ea\u5df1\u514d\u75ab\u6027\u91cd\u75c7\u7b4b\u7121\u529b\u75c7\uff08MG\uff09\u3068\u9451\u5225\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u6297AChR\u6297\u4f53\u9670\u6027\u4f8b\u3067\u306f\u7279\u306b\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u91cd\u8981\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u6cbb\u7642\u6cd5\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u5fdc\u3058\u3066\u7570\u306a\u308b\u304c\u3001<strong>CHRNE\u95a2\u9023CMS\u3067\u306f\u4ee5\u4e0b\u306e\u6cbb\u7642\u304c\u6709\u52b9\u3068\u3055\u308c\u308b<\/strong>\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u30a8\u30b9\u30c6\u30e9\u30fc\u30bc\u963b\u5bb3\u85ac\uff08AChEI\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30d4\u30ea\u30c9\u30b9\u30c1\u30b0\u30df\u30f3\uff08Mestinon\uff09<\/strong>\uff1a\u7b4b\u75b2\u52b4\u3092\u8efd\u6e1b<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u03b22\u30a2\u30c9\u30ec\u30ca\u30ea\u30f3\u53d7\u5bb9\u4f53\u4f5c\u52d5\u85ac\uff08\u03b22-agonists\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30b5\u30eb\u30d6\u30bf\u30e2\u30fc\u30eb\uff08Salbutamol\uff09<\/strong>\u3001<strong>\u30a8\u30d5\u30a7\u30c9\u30ea\u30f3<\/strong>\uff1a\u7b4b\u529b\u3092\u6539\u5584<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u529b\u7dad\u6301\u3068\u6a5f\u80fd\u7684\u72ec\u7acb\u6027\u3092\u4fc3\u9032<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u547c\u5438\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6a2a\u9694\u819c\u306e\u5f31\u5316\u304c\u3042\u308b\u5834\u5408\u3001\u4eba\u5de5\u547c\u5438\u5668\u306e\u5c0e\u5165\u3092\u691c\u8a0e<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u03b22\u30a2\u30b4\u30cb\u30b9\u30c8\u5358\u5264\u304c\u6700\u3082\u6709\u52b9\u3067\u3042\u308b\u3068\u306e\u5831\u544a\u304c\u3042\u308a\u3001\u7279\u306b <strong>AChR\u6b20\u640d\u578bCMS<\/strong> \u306b\u5bfe\u3059\u308b\u7b2c\u4e00\u9078\u629e\u85ac\u3068\u3057\u3066\u63a8\u5968\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>CHRNE\u95a2\u9023CMS\u306e\u4e88\u5f8c\u306f <strong>\u6cbb\u7642\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u6539\u5584\u53ef\u80fd<\/strong> \u3067\u3042\u308b\u3002\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u305f\u60a3\u8005\u306e\u7d0480%\u304c <strong>\u7b4b\u529b\u306e\u6539\u5584<\/strong> \u3092\u793a\u3057\u3001\u904b\u52d5\u80fd\u529b\u306e\u5411\u4e0a\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u500b\u3005\u306e\u75c7\u4f8b\u3067\u6cbb\u7642\u53cd\u5fdc\u306b\u306f\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e73\u5150\u671f\u767a\u75c7\u4f8b<\/strong> \u3067\u306f\u547c\u5438\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308b<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u671f\u767a\u75c7\u4f8b<\/strong> \u3067\u306f\u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u907a\u4f1d\u7684\u4fee\u98fe\u56e0\u5b50\u3084\u74b0\u5883\u8981\u56e0\u304c\u8868\u73fe\u578b\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u5fc5\u8981\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\/10.3233\/JND-230235\">Kastreva, K., Chamova, T., Blagoeva, S., Bichev, S., Mihaylova, V., Meyer, S., Thompson, R., Cherninkova, S., Guergueltcheva, V., Lochmuller, H., &amp; Tournev, I. (2024). Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c. 1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit. <em>Journal of Neuromuscular Diseases<\/em>, <em>11<\/em>(5), 1011\u20131020. https:\/\/doi.org\/10.3233\/JND-230235<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/biomedicines11112983\">Almatrafi, A. M., Alluqmani, M. M., &amp; Basit, S. (2023). Homozygous duplication in the chrne in a family with congenital myasthenic syndrome 4c: 18-year follow up. <em>Biomedicines<\/em>, <em>11<\/em>(11), 2983. https:\/\/doi.org\/10.3390\/biomedicines11112983<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s40478-025-01946-9\">Della Marina, A., Koutsoulidou, A., Natera-de Benito, D., Tykocinski, L. O., Tomazou, M., Georgiou, K., Laner, A., K\u00f6lbel, H., Nascimento, A., Ortez, C., Abicht, A., Thakur, B. K., Lochm\u00fcller, H., Phylactou, L. A., Ruck, T., Schara-Schmidt, U., Kale, D., Hentschel, A., &amp; Roos, A. (2025). Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome. <em>Acta neuropathologica communications<\/em>, <em>13<\/em>(1), 29. https:\/\/doi.org\/10.1186\/s40478-025-01946-9<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2024.105234\">Karimi, N., Ghasemi, A., Panahi, A., Ziaadini, B., &amp; Nafissi, S. (2025). CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights. <em>Neuromuscular Disorders<\/em>, <em>46<\/em>, 105234. https:\/\/doi.org\/10.1016\/j.nmd.2024.105234<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2174\/1570159X18666200729092332\">Huang, K., Luo, Y.-B., Bi, F.-F., &amp; Yang, H. (2021). Pharmacological strategy for congenital myasthenic syndrome with chrne mutations: A meta-analysis of case reports. <em>Current Neuropharmacology<\/em>, <em>19<\/em>(5), 718\u2013729. https:\/\/doi.org\/10.2174\/1570159X18666200729092332<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms24043730\">Ohno, K., Ohkawara, B., Shen, X.-M., Selcen, D., &amp; Engel, A. G. (2023). Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes\u2014A comprehensive review. <em>International Journal of Molecular Sciences<\/em>, <em>24<\/em>(4), 3730. https:\/\/doi.org\/10.3390\/ijms24043730<\/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>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4, CMS, CHRNE, \u795e\u7d4c\u7b4b\u63a5\u5408\u90e8, \u7b4b\u7121\u529b, \u773c\u77bc\u4e0b\u5782, AChR, \u30d4\u30ea\u30c9\u30b9\u30c1\u30b0\u30df\u30f3, \u30b5\u30eb\u30d6\u30bf\u30e2\u30fc\u30eb, \u03b22\u30a2\u30b4\u30cb\u30b9\u30c8, \u907a\u4f1d\u5b50\u5909\u7570, \u907a\u4f1d\u5b50\u691c\u67fb<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-61552","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\/61552","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":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/61552\/revisions"}],"predecessor-version":[{"id":128118,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/61552\/revisions\/128118"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=61552"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}