{"id":136764,"date":"2026-09-08T12:23:37","date_gmt":"2026-09-08T03:23:37","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136764"},"modified":"2026-09-08T12:23:37","modified_gmt":"2026-09-08T03:23:37","slug":"combined-oxidative-phosphorylation-deficiency-17-elac2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-17-elac2\/","title":{"rendered":"\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c717\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c717\u578b\u306f\u3001\u7d30\u80de\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u5de5\u5834\u3067\u3042\u308b<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/strong>\u306e\u306f\u305f\u3089\u304d\u304c\u751f\u307e\u308c\u3064\u304d\u640d\u306a\u308f\u308c\u308b\u305f\u3081\u306b\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u591a\u304f\u4f7f\u3046\u81d3\u5668\uff08\u8133\u30fb\u5fc3\u81d3\u30fb\u7b4b\u8089\u30fb\u809d\u81d3\u30fb\u814e\u81d3\uff09\u306b\u75c7\u72b6\u304c\u51fa\u308b\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>ELAC2<\/strong> 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\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306eRNA\u3092<strong>\u6b63\u3057\u3044\u9577\u3055\u306b\u5207\u308a\u51fa\u3059<\/strong>\u9175\u7d20\u3067\u3059\u3002\u3053\u306e\u578b\u3067\u306f\u3001<strong>\u4e73\u5150\u671f\u306e\u91cd\u3044\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7<\/strong>\u304c\u4e2d\u5fc3\u306e\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e73\u5150\u671f\u304b\u3089\u306e\u767a\u9054\u306e\u9045\u308c\u3001\u9000\u884c<\/strong><\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u3001\u7b4b\u529b\u306e\u4f4e\u4e0b<\/li>\n\n\n\n<li><strong>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/strong>\uff08\u8840\u6db2\u3084\u9ac4\u6db2\u306e\u4e73\u9178\u5024\u304c\u9ad8\u3044\uff09<\/li>\n\n\n\n<li><strong>\u5fc3\u7b4b\u75c7<\/strong>\uff08\u80a5\u5927\u578b\u307e\u305f\u306f\u62e1\u5f35\u578b\uff09<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\u3001\u8133\u75c7<\/li>\n\n\n\n<li>\u809d\u6a5f\u80fd\u306e\u969c\u5bb3<\/li>\n\n\n\n<li><strong>\u814e\u5c3f\u7d30\u7ba1\u306e\u969c\u5bb3<\/strong>\uff08\u96fb\u89e3\u8cea\u306e\u55aa\u5931\uff09<\/li>\n\n\n\n<li>\u96e3\u8074\u3001\u8996\u795e\u7d4c\u840e\u7e2e<\/li>\n\n\n\n<li>\u54fa\u4e73\u30fb\u6442\u98df\u306e\u56f0\u96e3\u3001\u6210\u9577\u306e\u9045\u308c<\/li>\n\n\n\n<li><strong>\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3068\u91cd\u3055\u306f\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059<\/strong><\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u8840\u6db2\u30fb\u9ac4\u6db2\u306e<strong>\u4e73\u9178\u5024\u306e\u4e0a\u6607<\/strong>\u3001\u982d\u90e8MRI\uff08\u57fa\u5e95\u6838\u3084\u8133\u5e79\u306e\u75c5\u5909\u3001\u767d\u8cea\u75c5\u5909\uff09\u3001\u7b4b\u751f\u691c\u3067\u306e\u547c\u5438\u9396\u9175\u7d20\u6d3b\u6027\u306e\u6e2c\u5b9a\uff08<strong>\u8907\u6570\u306e\u8907\u5408\u4f53\u306e\u6d3b\u6027\u4f4e\u4e0b<\/strong>\uff09\u304b\u3089\u7591\u3044\u307e\u3059\u3002\u78ba\u5b9a\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3001<strong>ELAC2<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c717\u578b\u3068\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6839\u672c\u7684\u306b\u6cbb\u3059\u65b9\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong><\/li>\n\n\n\n<li><strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30ab\u30af\u30c6\u30eb<\/strong>\uff08\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u3001L-\u30ab\u30eb\u30cb\u30c1\u30f3\u3001\u30d3\u30bf\u30df\u30f3B\u7fa4\u3001\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u306a\u3069\uff09\u304c\u7528\u3044\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306b\u5bfe\u3059\u308b\u5bfe\u5fdc\uff08\u91cd\u70ad\u9178\u3001\u30b8\u30af\u30ed\u30ed\u9162\u9178\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>\u5fc3\u6a5f\u80fd\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1<\/strong>\u3068\u5fc3\u4e0d\u5168\u306e\u6cbb\u7642<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\u306b\u5bfe\u3059\u308b\u6297\u3066\u3093\u304b\u3093\u85ac\uff08<strong>\u30d0\u30eb\u30d7\u30ed\u9178\u306f\u809d\u969c\u5bb3\u3092\u60aa\u5316\u3055\u305b\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u614e\u91cd\u306b<\/strong>\uff09<\/li>\n\n\n\n<li>\u6804\u990a\u306e\u7ba1\u7406\uff08\u7d4c\u7ba1\u6804\u990a\u3092\u542b\u3080\uff09\u3001\u7406\u5b66\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u30fb\u7d76\u98df\u30fb\u624b\u8853\u306a\u3069\u306e\u7570\u5316\u304c\u4ea2\u9032\u3059\u308b\u72b6\u6cc1\u3092\u907f\u3051\u308b<\/strong><\/li>\n\n\n\n<li><strong>\u9ebb\u9154\u3092\u53d7\u3051\u308b\u3068\u304d\u306f\u5fc5\u305a\u75c5\u540d\u3092\u4f1d\u3048\u3066\u304f\u3060\u3055\u3044<\/strong><\/li>\n\n\n<\/ul>\n\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\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ELAC2<\/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\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\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\n<p>\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>ELAC2<\/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\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\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>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c717\u578b\u306f <strong>ELAC2<\/strong> \u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u304c\u30b3\u30fc\u30c9\u3059\u308b13\u306eOXPHOS\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u7ffb\u8a33\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u3001<strong>\u8907\u5408\u4f53I\u30fbIII\u30fbIV\u30fbV\u304c\u540c\u6642\u306b\u4f4e\u4e0b\u3059\u308b\uff08\u8907\u5408\u4f53II\u306f\u5168\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304c\u6838\u30b3\u30fc\u30c9\u306e\u305f\u3081\u4fdd\u305f\u308c\u308b\uff09<\/strong>\u3002\u3053\u306e\u300c\u8907\u6570\u8907\u5408\u4f53\u306e\u540c\u6642\u6b20\u640d\u300d\u304cCOXPD\u306e\u751f\u5316\u5b66\u7684\u5b9a\u7fa9\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u8cac\u4efb\u907a\u4f1d\u5b50\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30a2\u30df\u30ce\u30a2\u30b7\u30ebtRNA\u5408\u6210\u9175\u7d20\uff08mt-aaRS\uff09\u3001tRNA\u4fee\u98fe\u9175\u7d20\u3001\u7ffb\u8a33\u56e0\u5b50\u3001\u30ea\u30dc\u30bd\u30fc\u30e0\u86cb\u767d\u3001\u30ea\u30dc\u30bd\u30fc\u30e0\u96c6\u5408\u56e0\u5b50\u306a\u3069\u3001\u7ffb\u8a33\u88c5\u7f6e\u306e\u5404\u6bb5\u968e\u306b\u5206\u5e03\u3059\u308b\u3002<strong>\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u540c\u3058\u7ffb\u8a33\u88c5\u7f6e\u306e\u969c\u5bb3\u3067\u3042\u308a\u306a\u304c\u3089\u3001\u907a\u4f1d\u5b50\u3054\u3068\u306b\u4fb5\u3055\u308c\u308b\u81d3\u5668\u304c\u5927\u304d\u304f\u7570\u306a\u308b<\/strong>\uff08\u5fc3\u81d3\u3001\u8133\u767d\u8cea\u3001\u814e\u81d3\u3001\u5375\u5de3\u306a\u3069\uff09\u3002\u3053\u306e\u81d3\u5668\u7279\u7570\u6027\u306e\u6a5f\u5e8f\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/p>\n\n\n\n<p><strong>ELAC2<\/strong>\uff0817p12\uff09\u306fRNase Z\u6d3b\u6027\u3092\u6301\u3061\u3001mt-tRNA\u306e3&#8217;\u672b\u7aef\u30d7\u30ed\u30bb\u30b7\u30f3\u30b0\u3092\u62c5\u3046\u3002<strong>\u81e8\u5e8a\u50cf\u306f\u4e73\u5150\u671f\u767a\u75c7\u306e\u91cd\u7be4\u306a\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u3068\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3067\u3001\u591a\u304f\u306f1\u6b73\u672a\u6e80\u3067\u6b7b\u4ea1<\/strong>\u3059\u308b\u3002\u3088\u308a\u8efd\u75c7\u306e\u8907\u5408\u578b\uff08\u767a\u9054\u9045\u6ede\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u306a\u304a\u672c\u907a\u4f1d\u5b50\u306f\u524d\u7acb\u817a\u304c\u3093\u611f\u53d7\u6027\u907a\u4f1d\u5b50HPC2\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u5bfe\u75c7\u7684\u3067\u3042\u308a\u3001\u3044\u308f\u3086\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30ab\u30af\u30c6\u30eb\u306e\u6709\u52b9\u6027\u306f\u9650\u5b9a\u7684\u3067\u3042\u308b\u3002<strong>\u5468\u8853\u671f\u306b\u306f\u3001\u30d7\u30ed\u30dd\u30d5\u30a9\u30fc\u30eb\uff08\u9577\u6642\u9593\u6295\u4e0e\u3067PRIS\u306e\u30ea\u30b9\u30af\uff09\u3001\u30d0\u30eb\u30d7\u30ed\u9178\uff08\u809d\u6bd2\u6027\uff09\u3001\u30a2\u30df\u30ce\u30b0\u30ea\u30b3\u30b7\u30c9\uff08mtDNA\u5909\u7570\u4f8b\u3067\u96e3\u8074\u5897\u60aa\uff09\u306a\u3069\u306b\u6ce8\u610f<\/strong>\u3092\u8981\u3059\u308b\u3002\u4e73\u9178\u5024\u306e\u307f\u3067\u306e\u8a3a\u65ad\u306f\u56f0\u96e3\u3067\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u4e2d\u5fc3\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u3093\u306a\u75c7\u72b6\u304c\u51fa\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u8133\u30fb\u5fc3\u81d3\u30fb\u7b4b\u8089\u30fb\u809d\u81d3\u30fb\u814e\u81d3\u306a\u3069\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u591a\u304f\u4f7f\u3046\u81d3\u5668\u306b\u75c7\u72b6\u304c\u51fa\u3084\u3059\u3044\u306e\u304c\u5171\u901a\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u6839\u672c\u7684\u306a\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u30d3\u30bf\u30df\u30f3\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u6cbb\u7642\uff08\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30ab\u30af\u30c6\u30eb\uff09\u3068\u3001\u81d3\u5668\u3054\u3068\u306e\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6c17\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u611f\u67d3\u75c7\u3001\u767a\u71b1\u3001\u9577\u6642\u9593\u306e\u7d76\u98df\u3001\u624b\u8853\u306a\u3069\u3067\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4f53\u8abf\u304c\u60aa\u3044\u3068\u304d\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u624b\u8853\u3084\u9ebb\u9154\u306e\u3068\u304d\u306e\u6ce8\u610f\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u5fc5\u305a\u75c5\u540d\u3092\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044\u3002<\/strong>\u4f7f\u7528\u3092\u907f\u3051\u305f\u307b\u3046\u304c\u3088\u3044\u85ac\uff08\u30d7\u30ed\u30dd\u30d5\u30a9\u30fc\u30eb\u306e\u9577\u6642\u9593\u6295\u4e0e\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u306a\u3069\uff09\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5fc3\u81d3\u306e\u75c7\u72b6\u304c\u91cd\u3044\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u4e73\u5150\u671f\u304b\u3089\u91cd\u3044\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u3092\u304d\u305f\u3059\u3053\u3068\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e9\u671f\u304b\u3089\u306e\u5fc3\u6a5f\u80fd\u306e\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Haack TB, Kopajtich R, Freisinger P, et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. <em>Am J Hum Genet<\/em>. 2013;93(2):211-223.<\/li>\n\n\n\n<li>Boczonadi V, Horvath R. Mitochondria: impaired mitochondrial translation in human disease. <em>Int J Biochem Cell Biol<\/em>. 2014;48:77-84.<\/li>\n\n\n\n<li>Gorman GS, Chinnery PF, DiMauro S, et al. Mitochondrial diseases. <em>Nat Rev Dis Primers<\/em>. 2016;2:16080.<\/li>\n\n\n\n<li>Rahman S, Thorburn D. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136764","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\/136764","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136764\/revisions"}],"predecessor-version":[{"id":137134,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136764\/revisions\/137134"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136764"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}