{"id":121926,"date":"2026-01-08T09:40:15","date_gmt":"2026-01-08T00:40:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121926"},"modified":"2026-03-03T16:52:33","modified_gmt":"2026-03-03T07:52:33","slug":"mitochondrial-complex-1-deficiency-ndufs6-related-ndufs6","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufs6-related-ndufs6\/","title":{"rendered":"\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08NDUFS6\u95a2\u9023\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306f\u7d30\u80de\u5185\u3067\u30a8\u30cd\u30eb\u30ae\u30fc\uff08ATP\uff09\u3092\u7523\u751f\u3059\u308b\u201c\u767a\u96fb\u6240\u201d\u306e\u5f79\u5272\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u4e2d\u5fc3\u3068\u306a\u308b\u4ed5\u7d44\u307f\u304c\u300c\u547c\u5438\u9396\uff08\u96fb\u5b50\u4f1d\u9054\u7cfb\uff09\u300d\u3067\u3059\u3002\u547c\u5438\u9396\u306e\u6700\u521d\u306e\u9175\u7d20\u8907\u5408\u4f53\u304c**\u8907\u5408\u4f53I\uff08Complex I\uff1aNADH\u8131\u6c34\u7d20\u9175\u7d20\uff09**\u3067\u3001\u3053\u3053\u306b\u6a5f\u80fd\u969c\u5bb3\u304c\u8d77\u3053\u308b\u3068\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4e0d\u8db3\u3068\u4e73\u9178\u306e\u84c4\u7a4d\uff08\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff09\u3092\u6765\u3057\u3001\u8133\u30fb\u7b4b\u30fb\u5fc3\u81d3\u30fb\u809d\u81d3\u306a\u3069\u9ad8\u3044\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u5fc5\u8981\u3068\u3059\u308b\u81d3\u5668\u306b\u75c7\u72b6\u304c\u51fa\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1224\/\">NCBI<\/a>)<\/p>\n\n\n\n<p><strong>NDUFS6<\/strong>\u306f\u8907\u5408\u4f53I\u3092\u69cb\u6210\u3059\u308b\u6838\u907a\u4f1d\u5b50\u7531\u6765\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u4e00\u3064\u3067\u3001NDUFS6\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u3088\u308a\u8907\u5408\u4f53I\u306e\u7d44\u307f\u7acb\u3066\u3084\u5b89\u5b9a\u6027\u304c\u969c\u5bb3\u3055\u308c\u3001\u91cd\u75c7\u306e\u65b0\u751f\u5150\u671f\u767a\u75c7\u4f8b\uff08\u81f4\u6b7b\u7684\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff09\u304b\u3089\u3001Leigh\u75c7\u5019\u7fa4\u306a\u3069\u306e\u8133\u75c7\u3092\u5448\u3059\u308b\u4f8b\u307e\u3067\u5e45\u5e83\u3044\u81e8\u5e8a\u50cf\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/p>\n\n\n\n<p>\u5f53\u9662\u3067\u306f\u3001<strong>NDUFS6\u907a\u4f1d\u5b50<\/strong>\u3092\u89e3\u6790\u5bfe\u8c61\u306b\u542b\u3080\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u53ef\u80fd\u3067\u3059\uff08\u691c\u67fb\u53ef\u5426\u3084\u9069\u5fdc\u306f\u691c\u67fb\u30e1\u30cb\u30e5\u30fc\u306b\u3088\u308a\u7570\u306a\u308a\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u5168\u4f53\u306f\u81e8\u5e8a\u7684\u30fb\u907a\u4f1d\u5b66\u7684\u306b\u591a\u69d8\u3067\u3001\u8907\u5408\u4f53I\u6b20\u640d\u306f\u5c0f\u5150\u671f\u767a\u75c7\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u547c\u5438\u9396\u7570\u5e38\u75c7\u306e\u4e2d\u3067\u3082\u91cd\u8981\u306a\u539f\u56e0\u306e\u4e00\u3064\u3068\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22972949\/?utm_source=chatgpt.com\">PubMed<\/a>)<br>\u4e00\u65b9\u3067\u3001<strong>NDUFS6\u95a2\u9023<\/strong>\u306b\u9650\u5b9a\u3057\u305f\u60a3\u8005\u6570\u30fb\u983b\u5ea6\u306f\u6975\u3081\u3066\u5c11\u306a\u304f\u3001\u5bb6\u7cfb\u5831\u544a\u30fb\u75c7\u4f8b\u5831\u544a\u3092\u4e2d\u5fc3\u306b\u84c4\u7a4d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u5b9a\u96c6\u56e3\uff08\u4f8b\uff1a\u30b3\u30fc\u30ab\u30b5\u30b9\u7cfb\u30e6\u30c0\u30e4\u4eba\u5bb6\u7cfb\uff09\u3067\u306e\u91cd\u75c7\u65b0\u751f\u5150\u4f8b\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC2986593\/?utm_source=chatgpt.com\">PMC<\/a>)<br>\uff08\u203b\u983b\u5ea6\u306f\u96c6\u56e3\u30fb\u7814\u7a76\u306b\u3088\u308a\u63a8\u5b9a\u306e\u524d\u63d0\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u672c\u30da\u30fc\u30b8\u3067\u306f\u4e00\u822c\u8ad6\uff0b\u4ee3\u8868\u7684\u5831\u544a\u306b\u7559\u3081\u307e\u3059\u3002\uff09<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong>\uff1a\u591a\u304f\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\uff08\u4e21\u30a2\u30ec\u30eb\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\uff09\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u307e\u3059\uff08\u5bb6\u65cf\u5185\u306b\u540c\u69d8\u306e\u4e73\u5e7c\u5150\u6b7b\u4ea1\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09\u3002 (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/li>\n\n\n\n<li><strong>\u75c5\u614b<\/strong>\uff1aNDUFS6\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308a\u8907\u5408\u4f53I\u306e<strong>\u7d44\u307f\u7acb\u3066\uff08assembly\uff09\u3084\u5b89\u5b9a\u6027<\/strong>\u304c\u969c\u5bb3\u3055\u308c\u3001\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001ATP\u7523\u751f\u4f4e\u4e0b\u3068\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u6642\u306e\u7834\u7dbb\uff08\u4e73\u9178\u4e0a\u6607\u306a\u3069\uff09\u3092\u6765\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u50cf\u306f\u5e45\u5e83\u304f\u3001\u767a\u75c7\u6642\u671f\u3084\u91cd\u75c7\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u8907\u5408\u4f53I\u6b20\u640d\u3067\u306f\u3001\u4ee5\u4e0b\u304c\u4ee3\u8868\u7684\u306b\u307f\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\u306e\u91cd\u75c7\u578b<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f\u3001\u50be\u7720\u3001\u547c\u5438\u969c\u5bb3<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/strong>\u3001\u5faa\u74b0\u4e0d\u5168<\/li>\n\n\n\n<li>\u65e9\u671f\u306b\u91cd\u7be4\u5316\u3057\u5f97\u308b\uff08\u81f4\u6b7b\u7684\u7d4c\u904e\u306e\u5831\u544a\u3042\u308a\uff09 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg200924\">Nature<\/a>)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u75c7\u72b6\uff08\u8133\u75c7\uff0fLeigh\u75c7\u5019\u7fa4\u306a\u3069\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u6ede\u30fb\u9000\u884c\u3001\u7b4b\u7dca\u5f35\u7570\u5e38\u3001\u3051\u3044\u308c\u3093<\/li>\n\n\n\n<li>\u904b\u52d5\u5931\u8abf\u3001\u56a5\u4e0b\u969c\u5bb3\u3001\u547c\u5438\u4e2d\u67a2\u969c\u5bb3\u306a\u3069 (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u30fb\u5fc3\u81d3\u30fb\u809d\u81d3\u306a\u3069<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u529b\u4f4e\u4e0b\u3001\u6613\u75b2\u52b4\u6027\uff08\u30df\u30aa\u30d1\u30c1\u30fc\uff09<\/li>\n\n\n\n<li>\u5fc3\u7b4b\u75c7\uff08\u80a5\u5927\u578b\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u809d\u969c\u5bb3 (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u300c\u81e8\u5e8a\u50cf\uff0b\u4ee3\u8b1d\u6240\u898b\uff0b\u753b\u50cf\uff0b\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u300d\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1<\/strong><strong><br><\/strong>\u795e\u7d4c\u75c7\u72b6\u3001\u767a\u9054\u3001\u5fc3\u6a5f\u80fd\u3001\u809d\u6a5f\u80fd\u3001\u611f\u67d3\u30fb\u7d76\u98df\u3067\u60aa\u5316\u3059\u308b\u304b\u7b49\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1224\/\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u691c\u67fb\uff08\u8840\u6db2\u30fb\u4ee3\u8b1d\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2d\u4e73\u9178\/\u30d4\u30eb\u30d3\u30f3\u9178\u3001\u30a2\u30cb\u30aa\u30f3\u30ae\u30e3\u30c3\u30d7\u3001\u30b1\u30c8\u30f3\u3001\u809d\u6a5f\u80fd\u306a\u3069<\/li>\n\n\n\n<li>\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u6642\u306b\u4e73\u9178\u304c\u4e0a\u6607\u3057\u3084\u3059\u3044 (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133MRI\u3067\u57fa\u5e95\u6838\u3084\u8133\u5e79\u306a\u3069\u306e\u75c5\u5909\u3092\u793a\u3059Leigh\u75c7\u5019\u7fa4\u306e\u6240\u898b\u3092\u8a55\u4fa1\uff08\u7591\u3044\u4f8b\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1173\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u751f\u5316\u5b66\u7684\u691c\u67fb\uff08\u65bd\u8a2d\u306b\u3088\u308a\u5b9f\u65bd\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u3084\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\u3067\u547c\u5438\u9396\u9175\u7d20\u6d3b\u6027\u3001\u8907\u5408\u4f53I\u306e\u7d44\u307f\u7acb\u3066\u7570\u5e38\uff08BN-PAGE\u306a\u3069\uff09\u3092\u691c\u8a0e (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>NDUFS6\u3092\u542b\u3080\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u95a2\u9023\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u3084\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u7b49\u3067\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u3092\u540c\u5b9a\u3057\u307e\u3059\u3002NDUFS6\u304c\u8907\u5408\u4f53I\u6b20\u640d\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306a\u308a\u5f97\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u539f\u56e0\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6a19\u6e96\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001<strong>\u652f\u6301\u7642\u6cd5\u30fb\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3<\/strong>\u3067\u3059\u3002 (<a href=\"https:\/\/www.chop.edu\/conditions-diseases\/mitochondrial-disease?utm_source=chatgpt.com\">Children&#8217;s Hospital of Philadelphia<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6025\u6027\u5897\u60aa\uff08\u611f\u67d3\u30fb\u7d76\u98df\u30fb\u624b\u8853\u306a\u3069\uff09\u306e\u56de\u907f\u3068\u65e9\u671f\u5bfe\u5fdc<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d76\u98df\u56de\u907f\u3001\u5341\u5206\u306a\u30ab\u30ed\u30ea\u30fc\u30fb\u6c34\u5206\u3001\u611f\u67d3\u6642\u306e\u65e9\u671f\u53d7\u8a3a<\/li>\n\n\n\n<li>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u5f37\u3044\u5834\u5408\u306f\u91cd\u75c7\u5ea6\u306b\u5fdc\u3058\u3066\u88dc\u6b63\u3092\u691c\u8a0e (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1173\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u75c7\u72b6\u3078\u306e\u6cbb\u7642<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3051\u3044\u308c\u3093\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u7570\u5e38\u30fb\u30b8\u30b9\u30c8\u30cb\u30a2\uff1a\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u85ac\u7269\u7642\u6cd5\u3001\u30ea\u30cf\u30d3\u30ea (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1173\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81d3\u5668\u5225\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u7b4b\u75c7\uff1a\u5faa\u74b0\u5668\u7684\u6cbb\u7642<\/li>\n\n\n\n<li>\u6804\u990a\u7ba1\u7406\uff1a\u7d4c\u53e3\u6442\u53d6\u56f0\u96e3\u6642\u306e\u6804\u990a\u30b5\u30dd\u30fc\u30c8<\/li>\n\n\n\n<li>\u767a\u9054\u652f\u63f4\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1173\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u88dc\u52a9\u7642\u6cd5\uff08\u3044\u308f\u3086\u308b\u201c\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30fb\u30ab\u30af\u30c6\u30eb\u201d\uff09<\/strong><strong><br><\/strong>\u30d3\u30bf\u30df\u30f3\u3084\u88dc\u9175\u7d20\uff08\u4f8b\uff1a\u88dc\u9175\u7d20Q10\u3001\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\u7b49\uff09\u3092\u7528\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u52b9\u679c\u306f\u75be\u60a3\u30fb\u75c5\u578b\u3067\u4e00\u5b9a\u3067\u306f\u306a\u304f\u3001\u4e3b\u6cbb\u533b\u306e\u5224\u65ad\u3067\u500b\u5225\u306b\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3561461\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GeneReviews\u00ae: <strong>Primary Mitochondrial Disorders Overview<\/strong> (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1224\/\">NCBI<\/a>)<\/li>\n\n\n\n<li>Kirby DM, et al. <strong>NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.<\/strong> J Clin Invest. 2004 (<a href=\"https:\/\/www.jci.org\/articles\/view\/20683\">JCI<\/a>)<\/li>\n\n\n\n<li>Hershkovitz E, et al. <strong>Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia\u2026<\/strong> Eur J Hum Genet. 2009\uff08PMC\u7248\uff09 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC2986593\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>Distelmaier F, et al. <strong>Complex I deficiency: clinical features, biochemistry and molecular genetics.<\/strong> J Med Genet. 2012 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22972949\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>GeneReviews\u00ae: <strong>Mitochondrial DNA-Associated Leigh Syndrome Spectrum<\/strong>\uff08\u7ba1\u7406\u30fb\u652f\u6301\u7642\u6cd5\u306e\u8a18\u8f09\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1173\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>Parikh S, et al. <strong>Patient care standards for primary mitochondrial disease<\/strong>\uff08Mitochondrial Medicine Society\u306e\u5408\u610f\u63d0\u8a00\uff09 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7804217\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121926","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\/121926","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121926\/revisions"}],"predecessor-version":[{"id":125303,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121926\/revisions\/125303"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121926"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}