{"id":60116,"date":"2023-08-24T11:04:15","date_gmt":"2023-08-24T02:04:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60116"},"modified":"2026-05-08T11:46:21","modified_gmt":"2026-05-08T02:46:21","slug":"mitochondria","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondria\/","title":{"rendered":"\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c71\u578b\uff08COXPD1\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>GFM1\uff5c<strong>C<\/strong>ombined <strong>Ox<\/strong>idative <strong>P<\/strong>hosphorylation <strong>D<\/strong>eficiency <strong>1<\/strong><\/p>\n\n\n\n<p><sup>COXPD1; <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> fatal progressive hepatoencephalopathy\uff08\u65e9\u671f\u81f4\u6b7b\u6027\u9032\u884c\u6027\u809d\u6027\u8133\u75c7\uff09; Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1\uff08\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c71\u578b\u306b\u3088\u308b\u809d\u6027\u8133\u75c7\uff09<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>COXPD1\uff08\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c71\u578b\uff09\u306f\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u4f53\u306e\u7d30\u80de\u304c\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u4f5c\u308b\u80fd\u529b\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001GFM1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002GFM1\u907a\u4f1d\u5b50\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\uff08\u7d30\u80de\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u4f5c\u308b\u90e8\u5206\uff09\u304c\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u306e\u3092\u52a9\u3051\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u3044\u3068\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306f\u5341\u5206\u306a\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u751f\u6210\u3067\u304d\u305a\u3001\u7279\u306b\u8133\u3084\u809d\u81d3\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u4e73\u5150\u671f\u65e9\u671f\u306b\u767a\u9054\u9045\u5ef6\u3001\u3051\u3044\u308c\u3093\u3001\u809d\u4e0d\u5168\u3068\u3044\u3063\u305f\u91cd\u7be4\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u591a\u304f\u306eCOXPD1\u306e\u5b50\u3069\u3082\u306f\u3001\u5e7c\u5c11\u671f\u3092\u8d85\u3048\u3066\u751f\u5b58\u3059\u308b\u3053\u3068\u304c\u96e3\u3057\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>COXPD1\u306f\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3001\u767a\u75c7\u7387\u306f100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u6b63\u78ba\u306a\u767a\u75c7\u983b\u5ea6\u306f\u4e0d\u660e\u3067\u3059\u3002\u8a3a\u65ad\u3055\u308c\u305f\u60a3\u8005\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u5e7c\u5c11\u671f\u306e\u3046\u3061\u306b\u4ea1\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>COXPD1\u306f\u3001GFM1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u4f38\u9577\u56e0\u5b50G1\uff08EFG1\uff1aElongation Factor G1\uff09\u3092\u4f5c\u308b\u305f\u3081\u306e\u6307\u793a\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002EFG1\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u304c\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5408\u6210\u3059\u308b\u969b\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6a5f\u80fd\u3057\u306a\u3044\u3068\u3001\u7d30\u80de\u306f\u5fc5\u8981\u306a\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u5341\u5206\u306b\u4f5c\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u308a\u3001\u7279\u306b\u30a8\u30cd\u30eb\u30ae\u30fc\u6d88\u8cbb\u304c\u591a\u3044\u8133\u3084\u809d\u81d3\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08autosomal recessive inheritance\uff09\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u3068\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001GFM1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306a\u30b3\u30d4\u30fc\u3092\u4e21\u89aa\u304b\u30891\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u306e\u307f\u767a\u75c7\u3059\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306f\u72ec\u81ea\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5408\u6210\u30b7\u30b9\u30c6\u30e0\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u7d30\u83cc\u3068\u4f3c\u305f\u4ed5\u7d44\u307f\u3067\u50cd\u304d\u307e\u3059\u3002EFG1\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30a2\u30df\u30ce\u9178\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u69cb\u6210\u8981\u7d20\uff09\u3092\u9069\u5207\u306a\u4f4d\u7f6e\u306b\u79fb\u52d5\u3055\u305b\u3001\u65b0\u3057\u3044\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u30d7\u30ed\u30bb\u30b9\u3092\u52a9\u3051\u307e\u3059\u3002EFG1\u304c\u6a5f\u80fd\u3057\u306a\u3044\u3068\u3001\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u304c\u59a8\u3052\u3089\u308c\u3001COXPD1\u306e\u91cd\u7be4\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>COXPD1\u306f\u4e3b\u306b\u8133\u3068\u809d\u81d3\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u751f\u5f8c\u9593\u3082\u306a\u304f\u6df1\u523b\u306a\u5065\u5eb7\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u306b\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u306e\u75c7\u72b6<\/strong>\uff1a\u767a\u9054\u306e\u9045\u308c\u3001\u4f53\u306e\u52d5\u304d\u3092\u5236\u5fa1\u3057\u306b\u304f\u304f\u306a\u308b\uff08\u30b8\u30b9\u30c8\u30cb\u30a2\uff09\u3001\u7b4b\u8089\u304c\u7570\u5e38\u306b\u786c\u76f4\u307e\u305f\u306f\u7de9\u3080\uff08\u9ad8\u7dca\u5f35\/\u4f4e\u7dca\u5f35\uff09\u3001\u3051\u3044\u308c\u3093\u3001\u5c0f\u982d\u75c7\uff08\u982d\u304c\u901a\u5e38\u3088\u308a\u5c0f\u3055\u3044\uff09\u3002\u4e00\u90e8\u306e\u4e73\u5150\u306f\u30a6\u30a7\u30b9\u30c8\u75c7\u5019\u7fa4\uff08West syndrome\uff09\u3092\u767a\u75c7\u3057\u3001\u3051\u3044\u308c\u3093\u3084\u767a\u9054\u306e\u5f8c\u9000\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u809d\u81d3\u306e\u554f\u984c<\/strong>\uff1a\u591a\u304f\u306e\u5b50\u3069\u3082\u304c\u51fa\u751f\u5f8c\u3059\u3050\u306b\u809d\u4e0d\u5168\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u7570\u5e38<\/strong>\uff1a\u8840\u6db2\u4e2d\u306e\u4e73\u9178\u6fc3\u5ea6\u304c\u4e0a\u6607\uff08\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff09\u3057\u3001\u8133\u3084\u4ed6\u306e\u81d3\u5668\u306b\u30c0\u30e1\u30fc\u30b8\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3<\/strong>\uff1a\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u304f\u3001\u98df\u4e8b\u3092\u6442\u308b\u306e\u304c\u56f0\u96e3\u306b\u306a\u308b\uff08\u767a\u80b2\u4e0d\u826f\uff09\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u969c\u5bb3<\/strong>\uff1a\u624b\u8db3\u306e\u611f\u899a\u304c\u5931\u308f\u308c\u308b\uff08\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8133\u306e\u69cb\u9020\u7570\u5e38<\/strong>\uff1a\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u306e\u4f4e\u5f62\u6210\u3084\u3001\u904b\u52d5\u6a5f\u80fd\u3092\u5236\u5fa1\u3059\u308b\u5927\u8133\u57fa\u5e95\u6838\uff08basal ganglia\uff09\u306e\u767d\u8cea\u969c\u5bb3\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>COXPD1\u306e\u91cd\u75c7\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u5b50\u3069\u3082\u306f\u75c5\u6c17\u306e\u9032\u884c\u304c\u901f\u304f\u3001\u5e7c\u5c11\u671f\u306b\u4ea1\u304f\u306a\u308a\u307e\u3059\u304c\u3001R671C\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u306f\u3001\u75c5\u6c17\u306e\u9032\u884c\u304c\u9045\u304f\u3001\u3088\u308a\u9577\u304f\u751f\u5b58\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u3089\u306e\u60a3\u8005\u3067\u3082\u6df1\u523b\u306a\u795e\u7d4c\u969c\u5bb3\u304c\u6b8b\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>COXPD1\u306e\u8a3a\u65ad\u306b\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3068\u3055\u307e\u3056\u307e\u306a\u691c\u67fb\u304c\u7d44\u307f\u5408\u308f\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aGFM1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306bDNA\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u691c\u67fb<\/strong>\uff1a\u8840\u6db2\u3084\u9ac4\u6db2\uff08\u8133\u810a\u9ac4\u6db2\uff09\u4e2d\u306e\u4e73\u9178\u5024\u3092\u6e2c\u5b9a\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u969c\u5bb3\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u753b\u50cf\u8a3a\u65ad<\/strong>\uff1aMRI\u3092\u7528\u3044\u3066\u3001\u767d\u8cea\u969c\u5bb3\u3084\u8133\u6881\u4f4e\u5f62\u6210\u306a\u3069\u306e\u7570\u5e38\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u809d\u6a5f\u80fd\u691c\u67fb<\/strong>\uff1a\u809d\u969c\u5bb3\u306e\u7a0b\u5ea6\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306e\u8840\u6db2\u691c\u67fb\u3002<\/li>\n\n\n\n<li><strong>\u751f\u5316\u5b66\u7684\u691c\u67fb<\/strong>\uff1a\u76ae\u819a\u3084\u7b4b\u8089\u306e\u7d30\u80de\u3092\u4f7f\u3044\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u80fd\u529b\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>COXPD1\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u75c7\u72b6\u3092\u7ba1\u7406\u3057\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3051\u3044\u308c\u3093\u7ba1\u7406<\/strong>\uff1a\u6297\u3051\u3044\u308c\u3093\u85ac\u3092\u4f7f\u7528\u3057\u3066\u767a\u4f5c\u3092\u6291\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u3092\u901a\u3058\u3066\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u6539\u5584\u3092\u56f3\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8<\/strong>\uff1a\u7279\u5225\u306a\u98df\u4e8b\u30d7\u30e9\u30f3\u3092\u7528\u3044\u3066\u3001\u5fc5\u8981\u306a\u6804\u990a\u3092\u6442\u53d6\u3067\u304d\u308b\u3088\u3046\u306b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u6cbb\u7642<\/strong>\uff1a\u7279\u5b9a\u306e\u85ac\u3084\u98df\u4e8b\u7642\u6cd5\u3067\u8840\u6db2\u4e2d\u306e\u4e73\u9178\u5024\u3092\u4e0b\u3052\u308b\u5bfe\u7b56\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7814\u7a76\u6bb5\u968e\u306e\u6cbb\u7642<\/strong>\uff1a\u52d5\u7269\u5b9f\u9a13\u3067\u306f\u3001EFG1\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u30ec\u30d9\u30eb\u3092\u90e8\u5206\u7684\u306b\u56de\u5fa9\u3055\u305b\u308b\u3053\u3068\u3067\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u6a5f\u80fd\u3092\u7dad\u6301\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5c06\u6765\u7684\u306b\u306f\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u5b89\u5b9a\u5316\u7642\u6cd5\u304c\u6709\u671b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u6b8b\u5ff5\u306a\u304c\u3089\u3001COXPD1\u306e\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f\u3001\u8133\u3084\u809d\u81d3\u306e\u6df1\u523b\u306a\u969c\u5bb3\u306b\u3088\u308a\u3001\u4e73\u5150\u671f\u307e\u305f\u306f\u5e7c\u5c11\u671f\u3092\u8d85\u3048\u3066\u751f\u5b58\u3059\u308b\u3053\u3068\u304c\u56f0\u96e3\u3067\u3059\u3002\u3057\u304b\u3057\u3001R671C\u5909\u7570\u3092\u6301\u3064\u4e00\u90e8\u306e\u60a3\u8005\u306f\u6bd4\u8f03\u7684\u9577\u304f\u751f\u5b58\u3059\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4f9d\u7136\u3068\u3057\u3066\u91cd\u7be4\u306a\u795e\u7d4c\u969c\u5bb3\u304c\u6b8b\u308a\u307e\u3059\u3002\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5408\u6210\u7570\u5e38\u306b\u95a2\u3059\u308b\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306b\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1096\/fj.202100819RRR\">Molina-Berenguer, M., Vila-Juli\u00e0, F., P\u00e9rez-Ramos, S., Salcedo-Allende, M. T., C\u00e1mara, Y., Torres-Torronteras, J., &amp; Mart\u00ed, R. (2022). Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.&nbsp;<em>FASEB journal : official publication of the Federation of American Societies for Experimental Biology<\/em>,&nbsp;<em>36<\/em>(1), e22091. https:\/\/doi.org\/10.1096\/fj.202100819RRR<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.24953\/turkjped.2022.1082\">Aleksic, D., Jankovic, M. G., Todorovic, S., Kovacevic, M., &amp; Borkovic, M. (2023). The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: A case report and literature review.&nbsp;<em>The Turkish Journal of Pediatrics<\/em>,&nbsp;<em>65<\/em>(6), 1018\u20131024. https:\/\/doi.org\/10.24953\/turkjped.2022.1082<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/combined-oxidative-phosphorylation-deficiency-1\/\"><em>Combined oxidative phosphorylation deficiency 1: MedlinePlus Genetics<\/em>. (n.d.). Retrieved 27 February 2025, from https:\/\/medlineplus.gov\/genetics\/condition\/combined-oxidative-phosphorylation-deficiency-1\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1056\/NEJMoa041878\">Coenen, M. J., Antonicka, H., Ugalde, C., Sasarman, F., Rossi, R., Heister, J. G., Newbold, R. F., Trijbels, F. J., van den Heuvel, L. P., Shoubridge, E. A., &amp; Smeitink, J. A. (2004). Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.&nbsp;<em>The New England journal of medicine<\/em>,&nbsp;<em>351<\/em>(20), 2080\u20132086. https:\/\/doi.org\/10.1056\/NEJMoa041878<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/ejhg.2010.208\">Smits, P., Antonicka, H., van Hasselt, P. M., Weraarpachai, W., Haller, W., Schreurs, M., Venselaar, H., Rodenburg, R. J., Smeitink, J. A., &amp; van den Heuvel, L. P. (2011). Mutation in subdomain G&#8217; of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.&nbsp;<em>European journal of human genetics : EJHG<\/em>,&nbsp;<em>19<\/em>(3), 275\u2013279. https:\/\/doi.org\/10.1038\/ejhg.2010.208<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1086\/510559\">Valente, L., Tiranti, V., Marsano, R. M., Malfatti, E., Fernandez-Vizarra, E., Donnini, C., Mereghetti, P., De Gioia, L., Burlina, A., Castellan, C., Comi, G. P., Savasta, S., Ferrero, I., &amp; Zeviani, M. (2007). Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.&nbsp;<em>American journal of human genetics<\/em>,&nbsp;<em>80<\/em>(1), 44\u201358. https:\/\/doi.org\/10.1086\/510559<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60116","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\/60116","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":17,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60116\/revisions"}],"predecessor-version":[{"id":128056,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60116\/revisions\/128056"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60116"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}