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class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>MFN2<\/strong>\uff08\u30de\u30a4\u30c8\u30d5\u30e5\u30fc\u30b8\u30f32\uff09\u306f\u3001\u7d30\u80de\u306e\u306a\u304b\u3067\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u3064\u304f\u308b<strong>\u300c\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u300d\u3069\u3046\u3057\u3092\u878d\u5408\u3055\u305b\u3001\u5f62\u3084\u914d\u7f6e\u3092\u6574\u3048\u308b\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3067\u3059\u3002<\/p>\n\n\n<p 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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u8ef8\u7d22\u578b2A2B\u3067\u306f <strong>MFN2<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002MFN2 \u306e\u5909\u5316\u304c1\u3064\u3060\u3051\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u9855\u6027\u306e\u578b\uff082A2A\uff09\u306e\u53ef\u80fd\u6027\u3082\u3042\u308b\u305f\u3081\u3001<strong>\u3054\u4e21\u89aa\u306e\u691c\u67fb\u3082\u3042\u308f\u305b\u3066\u884c\u3044\u3001\u907a\u4f1d\u306e\u3057\u304b\u305f\u3092\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u3046\u3048\u3067\u5927\u304d\u306a\u610f\u5473\u3092\u6301\u3061\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6cbb\u3059\u6cbb\u7642\u3084\u3001\u9032\u884c\u3092\u6b62\u3081\u308b\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001<strong>\u7b4b\u529b\u3084\u95a2\u7bc0\u306e\u52d5\u304d\u3092\u3067\u304d\u308b\u3060\u3051\u4fdd\u3061\u3001\u65e5\u5e38\u751f\u6d3b\u3092\u9001\u308a\u3084\u3059\u304f\u3059\u308b\u305f\u3081\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u652f\u63f4<\/strong>\u3067\u3059\u3002\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u306f\u305f\u3089\u304d\u3092\u88dc\u3046\u85ac\u306e\u7814\u7a76\u3082\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u307e\u3060\u5b9f\u7528\u5316\u306e\u6bb5\u968e\u306b\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u3067\u7b4b\u529b\u3084\u95a2\u7bc0\u306e\u67d4\u3089\u304b\u3055\u3092\u4fdd\u3061\u3001\u52d5\u4f5c\u306e\u5de5\u592b\u3092\u8eab\u306b\u3064\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u88c5\u5177<\/strong>\uff1a\u77ed\u4e0b\u80a2\u88c5\u5177\u306a\u3069\u3067\u8db3\u9996\u3092\u652f\u3048\u3001\u6b69\u304d\u3084\u3059\u304f\u3057\u3001\u8ee2\u5012\u3092\u9632\u304e\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\uff1a\u8db3\u306e\u5909\u5f62\u3084\u5074\u5f2f\u75c7\u304c\u9032\u3093\u3060\u5834\u5408\u306b\u3001\u624b\u8853\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u79fb\u52d5\u306e\u652f\u63f4<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6756\u30fb\u8eca\u3044\u3059\u306a\u3069\u3092\u4f7f\u3044\u3001\u6d3b\u52d5\u306e\u7bc4\u56f2\u3092\u4fdd\u3061\u307e\u3059<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u306b\u8ca0\u62c5\u3092\u304b\u3051\u308b\u85ac\u3078\u306e\u6ce8\u610f<\/strong>\uff1a\u4e00\u90e8\u306e\u6297\u304c\u3093\u5264\u306a\u3069\u3001\u672b\u68a2\u795e\u7d4c\u3092\u50b7\u3081\u3084\u3059\u3044\u85ac\u306f\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u306e\u3046\u3048\u4f7f\u7528\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8996\u529b\u30fb\u75db\u307f\u3078\u306e\u5bfe\u5fdc\u3001\u5b66\u6821\u751f\u6d3b\u3084\u5c31\u52b4\u306e\u652f\u63f4<\/strong><\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>MFN2<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>MFN2<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>MFN2<\/strong>\uff08mitofusin 2\uff09\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5916\u819c\u306b\u5c40\u5728\u3059\u308b<strong>\u30c0\u30a4\u30ca\u30df\u30f3\u95a2\u9023GTPase<\/strong>\u3067\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5916\u819c\u306e\u878d\u5408\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\uff0d\u5c0f\u80de\u4f53\u63a5\u89e6\u90e8\u4f4d\u306e\u5f62\u6210\u3001\u8ef8\u7d22\u5185\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8f38\u9001\u306b\u95a2\u4e0e\u3059\u308b\u3002<strong>\u9577\u5927\u306a\u672b\u68a2\u795e\u7d4c\u8ef8\u7d22\u3067\u306f\u9060\u4f4d\u90e8\u3078\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u4f9b\u7d66\u304c\u969c\u5bb3\u3055\u308c\u3001\u9577\u3055\u4f9d\u5b58\u6027\u306e\u8ef8\u7d22\u5909\u6027<\/strong>\u304c\u751f\u3058\u308b\u30022004\u5e74\u306b Z\u00fcchner \u3089\u304c CMT2A \u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u540c\u5b9a\u3057\u305f\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>MFN2 \u95a2\u9023\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\u306e\u5927\u534a\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306e CMT2A2A\uff08OMIM #609260\uff09\u3067\u3042\u308a\u3001\u8ef8\u7d22\u578b CMT \u306e\u306a\u304b\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u65b0\u751f\u5909\u7570\u306e\u5272\u5408\u3082\u9ad8\u3044\u3002<\/strong>\u3053\u308c\u306b\u5bfe\u3057<strong>\u672c\u75c7 CMT2A2B\uff08OMIM #617087\uff09\u306f\u4e21\u30a2\u30ec\u30eb\u6027\uff08\u30db\u30e2\u63a5\u5408\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\uff09\u5909\u7570\u306b\u3088\u308b\u6f5c\u6027\u578b<\/strong>\u3067\u3001\u591a\u304f\u306f\u5c0f\u5150\u671f\u65e9\u671f\u306b\u767a\u75c7\u3057\u3001\u9060\u4f4d\u512a\u4f4d\u306e\u7b4b\u529b\u4f4e\u4e0b\u30fb\u7b4b\u840e\u7e2e\u3001\u611f\u899a\u969c\u5bb3\u3001\u8171\u53cd\u5c04\u6d88\u5931\u3092\u5448\u3057\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u82e5\u5e74\u3067\u6b69\u884c\u4e0d\u80fd\u3068\u306a\u308b\u3002<strong>\u6f5c\u6027\u578b\u306e\u5909\u7570\u306f\u3001\u30d8\u30c6\u30ed\u63a5\u5408\u3067\u306f\u75c5\u539f\u6027\u306e\u5f31\u3044\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u304c\u591a\u304f\u3001\u30ad\u30e3\u30ea\u30a2\u306f\u901a\u5e38\u7121\u75c7\u72b6\u3060\u304c\u3001\u8efd\u5fae\u306a\u795e\u7d4c\u5b66\u7684\u6240\u898b\u3092\u793a\u3057\u305f\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002\u540c\u4e00\u907a\u4f1d\u5b50\u3067\u306f\u3001\u8996\u795e\u7d4c\u840e\u7e2e\u3092\u4f34\u3046\u907a\u4f1d\u6027\u904b\u52d5\u611f\u899a\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc6A\u578b\uff08HMSN VIA\u3001\u9855\u6027\uff09\u3084\u3001\u7279\u5b9a\u5909\u7570\uff08p.Arg707Trp\uff09\u306e\u30db\u30e2\u63a5\u5408\u306b\u3088\u308b\u591a\u767a\u6027\u5bfe\u79f0\u6027\u8102\u80aa\u816b\u75c7\uff08\u6f5c\u6027\uff09\u3082\u77e5\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u4ed6\u306e\u65e9\u671f\u767a\u75c7\u8ef8\u7d22\u578b CMT\uff08<em>GDAP1<\/em> \u306b\u3088\u308b\u3082\u306e\u306a\u3069\uff09\u3001\u8131\u9ac4\u578b CMT\uff08<em>PMP22<\/em> \u91cd\u8907\u306b\u3088\u308b CMT1A \u306a\u3069\uff09\u3001\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3001\u9060\u4f4d\u578b\u907a\u4f1d\u6027\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\u304c\u6319\u304c\u308b\u3002<strong>MFN2 \u306b\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\u304c1\u3064\u306e\u307f\u691c\u51fa\u3055\u308c\u305f\u5834\u5408\u3001\u9855\u6027\u578b\uff08\u65b0\u751f\u5909\u7570\u3092\u542b\u3080\uff09\u304b\u3001\u672a\u691c\u51fa\u306e\u7b2c2\u30a2\u30ec\u30eb\u3092\u6301\u3064\u6f5c\u6027\u578b\u304b\u3067\u6b21\u5b50\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308b\uff08\u9855\u6027\uff1a\u7f79\u60a3\u89aa\u7531\u6765\u306a\u308950%\u3001\u65b0\u751f\u5909\u7570\u306a\u3089\u3054\u304f\u4f4e\u7387\uff0f\u6f5c\u6027\uff1a25%\uff09\u305f\u3081\u3001\u4e21\u89aa\u306e\u89e3\u6790\u306b\u3088\u308b\u5909\u7570\u306e\u7531\u6765\uff08\u76f8\uff09\u306e\u78ba\u8a8d\u304c\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u578b\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u540c\u3058 MFN2 \u907a\u4f1d\u5b50\u3067\u3082\u9855\u6027\u306e\u578b\uff082A2A\uff09\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u767a\u75c7\u3057\u3066\u3044\u308b\u5834\u5408\u306f2\u5206\u306e1\u3001\u304a\u5b50\u3055\u307e\u306b\u65b0\u305f\u306b\u751f\u3058\u305f\u5909\u5316\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u306e\u5834\u5408\u306f\u3054\u304f\u308f\u305a\u304b\u3068\u3001\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u3069\u3061\u3089\u306e\u578b\u304b\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u305f\u3081\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u4e21\u89aa\u304c\u30ad\u30e3\u30ea\u30a2\u3068\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u306a\u51fa\u751f\u524d\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. 2A2A\u578b\u30682A2B\u578b\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u3069\u3061\u3089\u3082 MFN2 \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u75c7\u72b6\u3082\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u3002<strong>\u9055\u3044\u306f\u907a\u4f1d\u306e\u3057\u304b\u305f\u3067\u30012A2A\u578b\u306f\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u304c1\u3064\u3042\u308c\u3070\u767a\u75c7\u3059\u308b\u9855\u6027\u907a\u4f1d\u30012A2B\u578b\u306f\u4e21\u89aa\u304b\u30891\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002<\/strong>2A2B\u578b\u306f\u3001\u5e7c\u3044\u3053\u308d\u306b\u767a\u75c7\u3057\u6bd4\u8f03\u7684\u91cd\u304f\u306a\u308a\u3084\u3059\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b69\u3051\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u9032\u307f\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u88c5\u5177\u3084\u6756\u3092\u4f7f\u3044\u306a\u304c\u3089\u9577\u304f\u6b69\u884c\u3092\u4fdd\u3064\u65b9\u3082\u3044\u308c\u3070\u3001\u5c0f\u5150\u671f\u304b\u3089\u8eca\u3044\u3059\u304c\u5fc5\u8981\u306b\u306a\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<\/strong>\u65e9\u304f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u88c5\u5177\u3092\u53d6\u308a\u5165\u308c\u308b\u3053\u3068\u3067\u3001\u3067\u304d\u308b\u3053\u3068\u3092\u4fdd\u3061\u3001\u5b66\u6821\u751f\u6d3b\u3084\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308a\u3084\u3059\u304f\u3059\u308b\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #617087 Charcot-Marie-Tooth disease, axonal, type 2A2B. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>OMIM #609260 Charcot-Marie-Tooth disease, axonal, type 2A2A. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Z\u00fcchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. <em>Nat Genet<\/em>. 2004;36(5):449-451.<\/li>\n\n\n\n<li>Polke JM, Laur\u00e1 M, Pareyson D, et al. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. <em>Neurology<\/em>. 2011;77(2):168-173.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147797","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\/147797","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147797\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147797"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}