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class=\"wp-block-paragraph\">\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c54B1\u578b\u306f\u3001<strong>\u624b\u8db3\u306e\u795e\u7d4c\uff08\u672b\u68a2\u795e\u7d4c\uff09\u3092\u5305\u3080\u300c\u9ac4\u9798\uff08\u305a\u3044\u3057\u3087\u3046\uff09\u300d\u304c\u6b63\u3057\u304f\u4fdd\u305f\u308c\u306a\u3044\u305f\u3081\u306b\u3001\u624b\u8db3\u306e\u7b4b\u529b\u4f4e\u4e0b\u3084\u611f\u899a\u306e\u4f4e\u4e0b\u304c\u5c11\u3057\u305a\u3064\u9032\u3080\u907a\u4f1d\u6027\u306e\u795e\u7d4c\u306e\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>MTMR2<\/strong>\uff0811q21\uff09\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\uff08CMT\uff09\u306f\u907a\u4f1d\u6027\u306e\u672b\u68a2\u795e\u7d4c\u306e\u75c5\u6c17\u306e\u7dcf\u79f0\u3067\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u591a\u304f\u306e\u578b\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002\u305d\u306e\u306a\u304b\u30674\u578b\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u9ac4\u9798\u304c\u50b7\u3080\u578b<\/strong>\u3092\u307e\u3068\u3081\u305f\u3082\u306e\u3067\u30014B1\u578b\u306f<strong>\u4e73\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u91cd\u3044\u578b<\/strong>\u3067\u3059\u3002<strong>\u9854\u306e\u7b4b\u8089\u3084\u98f2\u307f\u8fbc\u307f\u3001\u547c\u5438\u306b\u304b\u304b\u308f\u308b\u795e\u7d4c\u306b\u307e\u3067\u5f71\u97ff\u304c\u53ca\u3076\u3053\u3068\u304c\u3042\u308b\u306e\u304c\u3001\u3053\u306e\u578b\u306e\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">\u540d\u524d\u306e\u4f3c\u305f\u578b\u306b4B2\u578b\uff08<strong>SBF2<\/strong> \u907a\u4f1d\u5b50\uff09\u30684B3\u578b\uff08<strong>SBF1<\/strong> \u907a\u4f1d\u5b50\uff09\u304c\u3042\u308a\u307e\u3059\u3002\u3044\u305a\u308c\u3082\u9855\u5fae\u93e1\u3067\u898b\u308b\u3068<strong>\u9ac4\u9798\u304c\u6298\u308c\u66f2\u304c\u3063\u3066\u91cd\u306a\u308b\u7279\u5fb4\u7684\u306a\u5909\u5316<\/strong>\u304c\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002<strong>4B1\u578b\u306f MTMR2 \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u30014B2\u578b\u306b\u6bd4\u3079\u3066\u767a\u75c7\u5f8c\u306e\u9032\u307f\u65b9\u304c\u901f\u304f\u3001\u9854\u3084\u547c\u5438\u306e\u7b4b\u8089\u306b\u307e\u3067\u75c7\u72b6\u304c\u51fa\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>MTMR2<\/strong> \u907a\u4f1d\u5b50\u306f\u3001<strong>\u7d30\u80de\u819c\u306e\u6210\u5206\uff08\u30ea\u30f3\u8102\u8cea\uff09\u306e\u4e00\u90e8\u3092\u5207\u308a\u53d6\u3063\u3066\u8abf\u6574\u3059\u308b\u9175\u7d20<\/strong>\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u7d30\u80de\u306e\u306a\u304b\u3067\u7269\u3092\u904b\u3093\u3060\u308a\u3001\u819c\u3092\u4f5c\u308a\u76f4\u3057\u305f\u308a\u3059\u308b\u3057\u304f\u307f\u306e\u8abf\u6574\u5f79\u3068\u3057\u3066\u306f\u305f\u3089\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u672b\u68a2\u795e\u7d4c\u3067\u306f\u3001<strong>\u30b7\u30e5\u30ef\u30f3\u7d30\u80de\u3068\u3044\u3046\u7d30\u80de\u304c\u795e\u7d4c\u306e\u7dda\u7dad\u306b\u4f55\u91cd\u306b\u3082\u5dfb\u304d\u3064\u3044\u3066\u9ac4\u9798\u3092\u3064\u304f\u308a\u3001\u96fb\u7dda\u306e\u88ab\u8986\u306e\u3088\u3046\u306b\u4fe1\u53f7\u3092\u901f\u304f\u4f1d\u3048\u308b\u306f\u305f\u3089\u304d<\/strong>\u3092\u3057\u3066\u3044\u307e\u3059\u3002MTMR2 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class=\"wp-block-list\">\n<li><strong>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u767a\u75c7<\/strong>\uff1a\u591a\u304f\u306f\u6b69\u304d\u59cb\u3081\u306e\u3053\u308d\u304b\u3089\u5e7c\u5150\u671f\u306b\u3001\u6b69\u304d\u65b9\u306e\u4e0d\u5b89\u5b9a\u3055\u3084\u8ee2\u3073\u3084\u3059\u3055\u3067\u6c17\u3065\u304b\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u624b\u8db3\u306e\u5148\u304b\u3089\u59cb\u307e\u308b\u7b4b\u529b\u4f4e\u4e0b\u3068\u7b4b\u8089\u306e\u3084\u305b<\/strong>\uff1a\u8db3\u9996\u304c\u4e0a\u304c\u308a\u306b\u304f\u304f\u306a\u308a\uff08\u4e0b\u5782\u8db3\uff09\u3001\u3064\u307e\u305a\u304d\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u9032\u3080\u3068\u624b\u306e\u7d30\u304b\u3044\u52d5\u4f5c\u3082\u96e3\u3057\u304f\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u611f\u899a\u306e\u4f4e\u4e0b<\/strong>\uff1a\u624b\u8db3\u306e\u5148\u306e\u89e6\u3063\u305f\u611f\u3058\u3084\u632f\u52d5\u306e\u611f\u3058\u65b9\u304c\u920d\u304f\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u8db3\u306e\u5909\u5f62\uff08\u51f9\u8db3\uff09\u3084\u80cc\u9aa8\u306e\u66f2\u304c\u308a\uff08\u5074\u5f2f\uff09<\/li>\n\n\n\n<li><strong>\u9854\u306e\u7b4b\u8089\u3084\u98f2\u307f\u8fbc\u307f\u306b\u304b\u304b\u308f\u308b\u795e\u7d4c\u306e\u969c\u5bb3<\/strong>\uff1a\u8868\u60c5\u304c\u3064\u304f\u308a\u306b\u304f\u3044\u3001\u3080\u305b\u3084\u3059\u3044\u306a\u3069\u306e\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u3001<strong>\u3053\u306e\u578b\u306e\u7279\u5fb4\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u547c\u5438\u306e\u7b4b\u8089\uff08\u6a2a\u9694\u819c\uff09\u3084\u58f0\u5e2f\u306e\u52d5\u304d\u306e\u4f4e\u4e0b<\/strong>\uff1a\u75c5\u6c17\u304c\u9032\u3080\u3068\u547c\u5438\u306e\u529b\u304c\u5f31\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6ce8\u610f\u6df1\u3044\u7d4c\u904e\u89b3\u5bdf\u304c\u5fc5\u8981\u3067\u3059<\/li>\n\n\n\n<li>\u75c7\u72b6\u306f\u5c11\u3057\u305a\u3064\u9032\u307f\u3001<strong>\u6210\u4eba\u671f\u306b\u306f\u8eca\u3044\u3059\u304c\u5fc5\u8981\u306b\u306a\u308b\u65b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093<\/strong>\u3002\u77e5\u7684\u306a\u767a\u9054\u306f\u901a\u5e38\u4fdd\u305f\u308c\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u5e7c\u5c11\u671f\u304b\u3089\u306e\u624b\u8db3\u306e\u7b4b\u529b\u4f4e\u4e0b\u3084\u6b69\u304d\u65b9\u306e\u7570\u5e38\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<strong>\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb<\/strong>\u3067\u3001\u795e\u7d4c\u306e\u4fe1\u53f7\u304c\u4f1d\u308f\u308b\u901f\u3055\u304c<strong>\u8457\u3057\u304f\u9045\u304f\u306a\u3063\u3066\u3044\u308b<\/strong>\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3001\u9ac4\u9798\u304c\u50b7\u3080\u30bf\u30a4\u30d7\u306e\u795e\u7d4c\u969c\u5bb3\u3067\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u4ee5\u524d\u306f\u795e\u7d4c\u306e\u4e00\u90e8\u3092\u63a1\u3063\u3066\u9855\u5fae\u93e1\u3067\u8abf\u3079\u308b<strong>\u795e\u7d4c\u751f\u691c<\/strong>\u3067\u3001<strong>\u9ac4\u9798\u304c\u6298\u308c\u66f2\u304c\u3063\u3066\u91cd\u306a\u308b\u7279\u5fb4\u7684\u306a\u6240\u898b<\/strong>\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3067\u3057\u305f\u3002\u73fe\u5728\u306f\u3001\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c54B1\u578b\u3067\u306f <strong>MTMR2<\/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\u3002<strong>\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\u306f\u578b\u306b\u3088\u3063\u3066\u907a\u4f1d\u5f62\u5f0f\u3084\u898b\u901a\u3057\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\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\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001<strong>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u88c5\u5177\u3001\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u5fdc<\/strong>\u3067\u3001\u3067\u304d\u308b\u3060\u3051\u9577\u304f\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u4fdd\u3064\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7b4b\u529b\u3084\u95a2\u7bc0\u306e\u52d5\u304f\u7bc4\u56f2\u3092\u4fdd\u3064\u305f\u3081\u306e\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u88c5\u5177\u30fb\u88dc\u52a9\u5177<\/strong>\uff1a\u4e0b\u5782\u8db3\u306b\u5bfe\u3059\u308b\u77ed\u4e0b\u80a2\u88c5\u5177\u3001\u6756\u3084\u8eca\u3044\u3059\u306a\u3069\u3067\u79fb\u52d5\u3092\u52a9\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u306a\u6cbb\u7642<\/strong>\uff1a\u8db3\u306e\u5909\u5f62\u3084\u5074\u5f2f\u304c\u5f37\u3044\u5834\u5408\u306b\u624b\u8853\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u3068\u98f2\u307f\u8fbc\u307f\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1<\/strong>\uff1a\u547c\u5438\u306e\u529b\u304c\u5f31\u304f\u306a\u3063\u305f\u5834\u5408\u306f\u3001\u591c\u9593\u306e\u547c\u5438\u88dc\u52a9\u306a\u3069\u3092\u691c\u8a0e\u3057\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\u672b\u68a2\u795e\u7d4c\u3092\u50b7\u3081\u3084\u3059\u3044\u85ac\u306f\u3001\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u306e\u3046\u3048\u3067\u614e\u91cd\u306b\u4f7f\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5b66\u6821\u751f\u6d3b\u30fb\u5c31\u52b4\u30fb\u798f\u7949\u5236\u5ea6\u306e\u652f\u63f4<\/strong>\u3068\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/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>MTMR2<\/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>MTMR2<\/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\u304a\u5b50\u3055\u307e\u3054\u3068\u306b<strong>4\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>MTMR2<\/strong>\uff08myotubularin-related protein 2\uff09\u306f<strong>\u30df\u30aa\u30c1\u30e5\u30fc\u30d6\u30e9\u30ea\u30f3\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u6d3b\u6027\u578b\u306e\u30db\u30b9\u30db\u30a4\u30ce\u30b7\u30c1\u30c9\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc<\/strong>\u3067\u3001PI(3)P \u304a\u3088\u3073 PI(3,5)P2 \u306e3\u4f4d\u30ea\u30f3\u9178\u3092\u8131\u30ea\u30f3\u9178\u5316\u3059\u308b\u3002\u30b7\u30e5\u30ef\u30f3\u7d30\u80de\u3067\u306f\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u30fb\u30ea\u30bd\u30bd\u30fc\u30e0\u7cfb\u306e\u819c\u8f38\u9001\u3068\u819c\u306e\u6052\u5e38\u6027\u3092\u8abf\u7bc0\u3057\u3066\u304a\u308a\u3001\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a<strong>\u9ac4\u9798\u306e\u5c40\u6240\u7684\u306a\u904e\u5270\u5f62\u6210\uff08myelin outfolding\uff0ffocally folded myelin\uff09<\/strong>\u304c\u751f\u3058\u308b\u3002<strong>Mtmr2 \u6b20\u640d\u30de\u30a6\u30b9\u3067\u3082\u540c\u69d8\u306e\u9ac4\u9798\u306e\u6298\u308a\u8fd4\u3057\u304c\u518d\u73fe\u3055\u308c\u3001\u3042\u308f\u305b\u3066\u7cbe\u5b50\u5f62\u6210\u969c\u5bb3\u304c\u307f\u3089\u308c\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>MTMR2 \u306f\u89e6\u5a92\u6d3b\u6027\u3092\u3082\u305f\u306a\u3044 MTMR13\uff08SBF2\uff09\u304a\u3088\u3073 MTMR5\uff08SBF1\uff09\u3068\u8907\u5408\u4f53\u3092\u5f62\u6210\u3059\u308b<\/strong>\u2014\u2014\u3053\u306e\u305f\u3081\u3001\u305d\u308c\u305e\u308c\u306e\u6b20\u640d\u304c\u540c\u3058\u75c5\u7406\u50cf\u3092\u3082\u3064<strong>4B1\u578b\uff08MTMR2\uff09\u30014B2\u578b\uff08SBF2\uff09\u30014B3\u578b\uff08SBF1\uff09<\/strong>\u3092\u751f\u3058\u308b\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3001<strong>4B1\u578b\u306f\u4e73\u5e7c\u5150\u671f\u767a\u75c7\u3067\u9032\u884c\u304c\u901f\u304f\u3001\u9854\u9762\u30fb\u7403\u9ebb\u75fa\u3001\u58f0\u5e2f\u9ebb\u75fa\u3001\u6a2a\u9694\u819c\u9ebb\u75fa\u306a\u3069\u8133\u795e\u7d4c\u30fb\u547c\u5438\u7b4b\u306e\u969c\u5bb3\u3092\u4f34\u3044\u3084\u3059\u3044<\/strong>\u70b9\u304c\u7279\u5fb4\u3067\u3001\u904b\u52d5\u795e\u7d4c\u4f1d\u5c0e\u901f\u5ea6\u306f\u6982\u306d 15\u301c20 m\/s \u4ee5\u4e0b\u3068\u9ad8\u5ea6\u306b\u4f4e\u4e0b\u3059\u308b\u30024B2\u578b\u306f\u9032\u884c\u304c\u3084\u3084\u7de9\u3084\u304b\u3067\u3001\u4e00\u90e8\u306b\u65e9\u671f\u767a\u75c7\u7dd1\u5185\u969c\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u307b\u304b\u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u8131\u9ac4\u578b\uff08CMT4A\uff1a<em>GDAP1<\/em>\u3001CMT4C\uff1a<em>SH3TC2<\/em>\u3001CMT4F\uff1a<em>PRX<\/em> \u306a\u3069\uff09\u3001\u4e73\u5150\u671f\u767a\u75c7\u306e\u91cd\u75c7\u8131\u9ac4\u578b\u3067\u3042\u308b\u30c7\u30b8\u30a7\u30ea\u30f3\u30fb\u30bd\u30c3\u30bf\u30b9\u75c5\uff08<em>PMP22<\/em>\u3001<em>MPZ<\/em>\u3001<em>EGR2<\/em> \u306a\u3069\u3001\u9855\u6027\u306e\u65b0\u751f\u5909\u7570\u3092\u542b\u3080\uff09\u3001CMT1A\uff08<em>PMP22<\/em> \u91cd\u8907\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u6f5c\u6027\uff09\u300150%\uff08\u9855\u6027\uff09\u3001\u307b\u307c0%\uff08\u65b0\u751f\u5909\u7570\uff09\u3068\u5927\u304d\u304f\u9055\u3046\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\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\u75c5\u6c17\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>\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\u306b\u306f\u9855\u6027\u907a\u4f1d\u306e\u578b\u3082\u591a\u304f\u3001\u578b\u306b\u3088\u3063\u3066\u518d\u767a\u7387\u306f\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u6b63\u3057\u3044\u898b\u901a\u3057\u3092\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\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\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\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\u898b\u3064\u3051\u308b\u3053\u3068\u306f\u901a\u5e38\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u306b\u8a3a\u65ad\u306e\u3064\u3044\u305f\u65b9\u304c\u3044\u308b\u5834\u5408\u3084\u3054\u4e21\u89aa\u304c\u30ad\u30e3\u30ea\u30a2\u3068\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\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. 4B2\u578b\u30844B3\u578b\u3068\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3044\u305a\u308c\u3082\u9ac4\u9798\u304c\u6298\u308c\u66f2\u304c\u308b\u540c\u3058\u3088\u3046\u306a\u5909\u5316\u3092\u8d77\u3053\u3057\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>4B1\u578b\u306f MTMR2 \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001<strong>\u5e7c\u3044\u3053\u308d\u304b\u3089\u75c7\u72b6\u304c\u51fa\u3066\u3001\u9854\u3084\u98f2\u307f\u8fbc\u307f\u3001\u547c\u5438\u306e\u7b4b\u8089\u306b\u3082\u5f71\u97ff\u304c\u51fa\u3084\u3059\u3044<\/strong>\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u3069\u306e\u578b\u304b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5c06\u6765\u3001\u6b69\u3051\u306a\u304f\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u75c7\u72b6\u306f\u5c11\u3057\u305a\u3064\u9032\u307f\u3001\u6210\u4eba\u671f\u306b\u8eca\u3044\u3059\u304c\u5fc5\u8981\u306b\u306a\u308b\u65b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u305f\u3060\u3057\u9032\u307f\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u88c5\u5177\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u547c\u5438\u3084\u98f2\u307f\u8fbc\u307f\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d\u306b\u3088\u3063\u3066\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u305f\u3081\u306e\u652f\u63f4\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\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>Bolino A, Muglia M, Conforti FL, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. <em>Nat Genet<\/em>. 2000;25(1):17-19.<\/li>\n\n\n\n<li>Quattrone A, Gambardella A, Bono F, et al. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. <em>Neurology<\/em>. 1996;46(5):1318-1324.<\/li>\n\n\n\n<li>Bolino A, Bolis A, Previtali SC, et al. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. <em>J Cell Biol<\/em>. 2004;167(4):711-721.<\/li>\n\n\n\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 #601382 Charcot-Marie-Tooth disease, type 4B1. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147811","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\/147811","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\/147811\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147811"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}