{"id":33639,"date":"2022-07-11T17:25:11","date_gmt":"2022-07-11T08:25:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33639"},"modified":"2026-04-28T12:17:34","modified_gmt":"2026-04-28T03:17:34","slug":"combined-oxidative-phosphorylation-deficiency-3","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-3\/","title":{"rendered":"\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c73"},"content":{"rendered":"\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c73\uff08COXPD3\uff09\u306f\u3001TSFM\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75be\u60a3\u3067\u3059\u3002\u5e7c\u5c11\u671f\u306b\u767a\u75c7\u3057\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306a\u3069\u306e\u75c7\u72b6\u3092\u4f34\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001COXPD3\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u7ba1\u7406\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>TSFM\uff5cCombined Oxidative Phosphorylation Deficiency 3<\/p>\n\n\n\n<p><sup>COXPD3; Fatal Mitochondrial Disease Due to Combined Oxidative Phosphorylation Defect Type 3; Concentric Cardiomyopathy, Hypotonia, and Lactic Acidosis<a href=\"https:\/\/disease-ontology.org\/?id=DOID:0111486\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c73\uff08COXPD3\uff09\u306f\u3001<strong>TSFM<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5408\u6210\u306b\u5fc5\u8981\u306a\u4f38\u9577\u56e0\u5b50Ts\uff08EF-Ts\u3001Elongation Factor Ts\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u751f\u5408\u6210\u3084\u547c\u5438\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u5e7c\u5c11\u671f\u306b\u767a\u75c7\u3059\u308b\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08\u3072\u3060\u3044\u304c\u305f\u3057\u3093\u304d\u3093\u3057\u3087\u3046\uff09\u3084\u8133\u7b4b\u75c7\uff08\u306e\u3046\u304d\u3093\u3057\u3087\u3046\uff09\u306a\u3069\u3001\u591a\u69d8\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002COXPD3\u306f\u3001\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\uff08OXPHOS\u3001Oxidative Phosphorylation\uff09\u30b7\u30b9\u30c6\u30e0\u306e\u7570\u5e38\u306b\u3088\u308b\u75be\u60a3\u7fa4\u306e\u4e00\u3064\u3067\u3042\u308a\u3001ATP\uff08\u30a2\u30c7\u30ce\u30b7\u30f3\u4e09\u30ea\u30f3\u9178\uff09\u3092\u7523\u751f\u3059\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u6a5f\u80fd\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75be\u60a3\u306f\u3001\u51fa\u751f5,000\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<strong>TSFM<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u75be\u60a3\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3042\u308a\u30012021\u5e74\u306e\u7814\u7a76\u6642\u70b9\u3067<strong>\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306f\u308f\u305a\u304b17\u4f8b<\/strong>\u3067\u300111\u672c\u306e\u8ad6\u6587\u306b\u8a18\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306f\u4e3b\u306b\u5e7c\u5c11\u671f\u306b\u767a\u75c7\u3057\u3001\u305d\u306e\u91cd\u75c7\u5ea6\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<strong>75%\u4ee5\u4e0a\u306e\u60a3\u8005<\/strong>\u304c\u767a\u75c7\u6642\u306b\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u8840\u4e2d\u4e73\u9178\u5024\u306e\u7570\u5e38\u4e0a\u6607\uff09\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p><strong>TSFM<\/strong>\u907a\u4f1d\u5b50\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3067\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5408\u6210\u3092\u52a9\u3051\u308b\u4f38\u9577\u56e0\u5b50EF-Ts\u3092\u4f5c\u308a\u51fa\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u3067\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5408\u6210\u304c\u969c\u5bb3\u3055\u308c\u3001\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\uff08OXPHOS\uff09\u30b7\u30b9\u30c6\u30e0\u306b\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u7279\u306b<strong>\u8907\u5408\u4f53I\uff08Complex I\u3001CI\uff09\u306e\u6a5f\u80fd\u4f4e\u4e0b<\/strong>\u304c\u554f\u984c\u3068\u306a\u308a\u3001ATP\u306e\u751f\u7523\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u306f\u3001ATP\u3092\u751f\u6210\u3059\u308b\u305f\u3081\u306b\u96fb\u5b50\u3092\u4f1d\u9054\u3057\u306a\u304c\u3089\u30ea\u30f3\u9178\u3092\u7d50\u3073\u3064\u3051\u308b\u904e\u7a0b\u3067\u3059\u3002\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u306b\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u306b\u5b58\u5728\u3059\u308b5\u3064\u306e\u9175\u7d20\u8907\u5408\u4f53\uff08CI\u301cCV\uff09\u304c\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001<strong>CI\u306e\u7570\u5e38\u306fOXPHOS\u969c\u5bb3\u306e\u7d0430%\u3092\u5360\u3081<\/strong>\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\uff08Leigh syndrome\uff09\u3084\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306f\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u306e\u307b\u304b\u306b\u3082\u30ab\u30eb\u30b7\u30a6\u30e0\u3084\u9244\u306e\u8abf\u7bc0\u3001\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff08\u7d30\u80de\u6b7b\u306e\u5236\u5fa1\uff09\u306a\u3069\u3001\u591a\u304f\u306e\u751f\u547d\u6d3b\u52d5\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306f\u3001\u7279\u306b\u30a8\u30cd\u30eb\u30ae\u30fc\u6d88\u8cbb\u91cf\u306e\u591a\u3044\u5fc3\u81d3\u3001\u8133\u3001\u7b4b\u8089\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<!-- CTA Button -->\n\n<figure class=\"cta-btn\">\n<div class=\"cta-img\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2023\/03\/button_pc.png\" alt=\"\u539f\u56e0\">\n<\/div>\n<div class=\"button-1\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2023\/03\/cta-btn-orng-2.png\">\n<img decoding=\"async\" class=\"button-2\" src=\"\/nipt\/wp-content\/uploads\/2023\/03\/cta-btn-down.png\" alt=\"blue-btn\">\n<\/div>\n<\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>COXPD3\u306e\u75c7\u72b6\u306f\u60a3\u8005\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e3b\u306a\u3082\u306e\u3068\u3057\u3066\u4ee5\u4e0b\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff0865%\u306e\u60a3\u8005\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff0841%\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u8996\u795e\u7d4c\u840e\u7e2e\uff0829%\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff0875%\u4ee5\u4e0a\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u904e\u904b\u52d5\u6027\u904b\u52d5\u969c\u5bb3\uff08\u6700\u8fd1TSFM\u5909\u7570\u3068\u306e\u95a2\u9023\u304c\u5831\u544a\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u8133\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u5b64\u7acb\u6027\u82e5\u5e74\u6027\u5fc3\u7b4b\u75c7<\/strong>\u306a\u3069\u306e\u75c7\u72b6\u304c\u307f\u3089\u308c\u307e\u3059\u3002<strong>TSFM\u306e\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\uff08compound heterozygous mutation\uff09\u306f\u3001\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u8efd\u304f\u306a\u308b\u50be\u5411<\/strong>\u304c\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u30db\u30e2\u63a5\u5408\u6027\uff08homozygous\uff09\u306e\u5834\u5408\u306f\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\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>COXPD3\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u65b9\u6cd5\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong> &#8211; \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WES\u3001Whole Exome Sequencing\uff09\u306b\u3088\u308bTSFM\u5909\u7570\u306e\u7279\u5b9a\u3002<\/li>\n\n\n\n<li><strong>\u751f\u5316\u5b66\u691c\u67fb<\/strong> &#8211; \u8840\u4e2d\u4e73\u9178\u5024\u306e\u4e0a\u6607\u3084\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u547c\u5438\u6a5f\u80fd\u306e\u7570\u5e38\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u7d44\u7e54\u691c\u67fb<\/strong> &#8211; \u7b4b\u751f\u691c\u3067\u300c\u307c\u308d\u7dda\u7dad\uff08ragged-red fibers\uff09\u300d\u3084\u7570\u5e38\u306a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3092\u691c\u51fa\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u691c\u67fb<\/strong> &#8211; \u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3084MRI\u306b\u3088\u308b\u80a5\u5927\u578b\u30fb\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\u306e\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u753b\u50cf\u691c\u67fb<\/strong> &#8211; \u8133MRI\u3067\u30ea\u30fc\u75c7\u5019\u7fa4\u306b\u7279\u5fb4\u7684\u306a\u75c5\u5909\u3092\u78ba\u8a8d\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>COXPD3\u306b\u306f<strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093<\/strong>\u304c\u3001\u75c7\u72b6\u306e\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e8c\u5869\u5316\u9162\u9178\uff08DCA\u3001Dichloroacetate\uff09<\/strong>\uff1a\u4e73\u9178\u5024\u3092\u4e0b\u3052\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u53ef\u80fd\u6027\u3042\u308a\u3002<\/li>\n\n\n\n<li><strong>L-\u30ab\u30eb\u30cb\u30c1\u30f3\u30fb\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q\u88dc\u5145<\/strong>\uff1a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u306e\u30b5\u30dd\u30fc\u30c8\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u7ba1\u7406<\/strong>\uff1a\u30d9\u30fc\u30bf\u906e\u65ad\u85ac\u3084ACE\u963b\u5bb3\u85ac\u3092\u4f7f\u7528\u3057\u3001\u5fc3\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u3092\u8efd\u6e1b\u3002<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u7ba1\u7406<\/strong>\uff1a\u30a8\u30cd\u30eb\u30ae\u30fc\u6d88\u8cbb\u3092\u6700\u9069\u5316\u3059\u308b\u305f\u3081\u306e\u6804\u990a\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\u306e\u6539\u5584\u3092\u76ee\u6307\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u5fc3\u7b4b\u75c7\u306f\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u3001<strong>\u65e9\u671f\u8a3a\u65ad\u3068\u7a4d\u6975\u7684\u306a\u6cbb\u7642\u304c\u4e88\u5f8c\u3092\u6539\u5584\u3059\u308b\u9375<\/strong>\u3068\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u5e7c\u5150\u671f\u306e\u751f\u5b58\u304c\u4e88\u5f8c\u306b\u5927\u304d\u304f\u95a2\u4e0e\u3057\u3001<strong>\u4e73\u5150\u671f\u3092\u4e57\u308a\u8d8a\u3048\u305f\u60a3\u8005\u3067\u306f\u5fc3\u7b4b\u75c7\u304c\u5b89\u5b9a\u3059\u308b\u53ef\u80fd\u6027<\/strong>\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>COXPD3\u306e\u7d4c\u904e\u306f\u60a3\u8005\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u91cd\u75c7\u306a\u65b0\u751f\u5150\u767a\u75c7\u4f8b\u3067\u306f\u3001<strong>\u65e9\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u30ea\u30b9\u30af<\/strong>\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001<strong>\u5e7c\u5150\u671f\u3092\u751f\u5b58\u3057\u305f\u60a3\u8005\u3067\u306f\u5fc3\u7b4b\u75c7\u304c\u5b89\u5b9a\u3059\u308b\u3053\u3068\u3082\u3042\u308a<\/strong>\u307e\u3059\u3002\u3053\u306e\u7406\u7531\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u5897\u6b96\uff08hyperplasia\uff09\u3084EF-Ts\u306e\u6b8b\u5b58\u6a5f\u80fd\u304c\u5f71\u97ff\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u666e\u53ca\u3084\u9577\u671f\u7684\u306a\u60a3\u8005\u306e\u8ffd\u8de1\u8abf\u67fb\u306b\u3088\u3063\u3066\u3001<strong>TSFM\u95a2\u9023\u75be\u60a3\u306e\u7406\u89e3\u304c\u6df1\u307e\u308a\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u671f\u5f85<\/strong>\u3055\u308c\u307e\u3059\u3002\u7279\u306b\u3001WES\u306b\u3088\u308b\u65e9\u671f\u8a3a\u65ad\u3068\u5fc3\u7b4b\u75c7\u306e\u7d4c\u904e\u89b3\u5bdf\u306f\u3001\u5fc3\u81d3\u79fb\u690d\u3092\u542b\u3080\u5c06\u6765\u7684\u306a\u6cbb\u7642\u8a08\u753b\u3092\u7acb\u3066\u308b\u4e0a\u3067\u91cd\u8981\u3067\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\/10.1155\/2010\/737385\">Smits, P., Smeitink, J., &amp; Van Den Heuvel, L. (2010). Mitochondrial translation and beyond: Processes implicated in combined oxidative phosphorylation deficiencies. <em>Journal of Biomedicine and Biotechnology<\/em>, <em>2010<\/em>, 1\u201324. https:\/\/doi.org\/10.1155\/2010\/737385<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1042\/BSR20150295\">Nsiah-Sefaa, A., &amp; McKenzie, M. (2016). Combined defects in oxidative phosphorylation and fatty acid \u03b2-oxidation in mitochondrial disease. <em>Bioscience Reports<\/em>, <em>36<\/em>(2), e00313. https:\/\/doi.org\/10.1042\/BSR20150295<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fcvm.2021.798985\">Yang, J. O., Shaybekyan, H., Zhao, Y., Kang, X., Fishbein, G. A., Khanlou, N., Alejos, J. C., Halnon, N., Satou, G., Biniwale, R., Lee, H., Van Arsdell, G., Nelson, S. F., Touma, M., the UCLA Clinical Genomics Center, &amp; the UCLA Congenital Heart Defects-BioCore Faculty. (2022). Case report: Whole exome sequencing identifies compound heterozygous variants in tsfm gene causing juvenile hypertrophic cardiomyopathy. <em>Frontiers in Cardiovascular Medicine<\/em>, <em>8<\/em>, 798985. https:\/\/doi.org\/10.3389\/fcvm.2021.798985<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":27,"template":"page_gd.php","class_list":["post-33639","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\/33639","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":6,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33639\/revisions"}],"predecessor-version":[{"id":127680,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33639\/revisions\/127680"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33639"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}