{"id":33792,"date":"2022-07-12T13:39:03","date_gmt":"2022-07-12T04:39:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33792"},"modified":"2026-04-28T13:59:11","modified_gmt":"2026-04-28T04:59:11","slug":"leigh-syndrome-french-canadian-type","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leigh-syndrome-french-canadian-type\/","title":{"rendered":"\u30ea\u30fc\u8133\u75c7(\u30d5\u30e9\u30f3\u30b9-\u30ab\u30ca\u30c0\u578b\uff09"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30ea\u30fc\u75c7\u5019\u7fa4\u306e\u30d5\u30ec\u30f3\u30c1\u30fb\u30ab\u30ca\u30c7\u30a3\u30a2\u30f3\u578b\uff08LSFC\uff09\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u7570\u5e38\u306b\u8d77\u56e0\u3059\u308b\u5e0c\u5c11\u306a\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001LSFC\u306e\u539f\u56e0\u907a\u4f1d\u5b50<strong>LRPPRC<\/strong>\u306e\u5f79\u5272\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u7ba1\u7406\u306e\u73fe\u72b6\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u7279\u306b\u3001<strong>\u907a\u4f1d\u5b50\u5909\u7570\u304c\u3069\u306e\u3088\u3046\u306b\u75c5\u614b\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u304b<\/strong>\u3001\u307e\u305f<strong>\u6cbb\u7642\u7814\u7a76\u306e\u6700\u65b0\u60c5\u5831<\/strong>\u306b\u7126\u70b9\u3092\u5f53\u3066\u3066\u3044\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>LRPPRC\uff5cLeigh Syndrome, French-Canadian Type<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30ea\u30fc\u75c7\u5019\u7fa4\uff08Leigh syndrome, LS\uff09\u306f\u3001\u4e3b\u306b\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u91cd\u7be4\u306a\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u6a5f\u80fd\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u30d5\u30ec\u30f3\u30c1\u30fb\u30ab\u30ca\u30c7\u30a3\u30a2\u30f3\u578b\u30ea\u30fc\u75c7\u5019\u7fa4\uff08Leigh syndrome, French-Canadian type, LSFC\uff09\u306f\u3001LS\u306e\u7279\u7570\u306a\u4e9c\u578b\u3067\u3042\u308a\u3001\u30ab\u30ca\u30c0\u306e\u30b1\u30d9\u30c3\u30af\u5dde\u30b5\u30b0\u30cd\u30fb\u30e9\u30c3\u30af\u30fb\u30b5\u30f3\u30fb\u30b8\u30e3\u30f3\uff08Saguenay\u2013Lac-Saint-Jean, SLSJ\uff09\u5730\u57df\u306b\u591a\u767a\u3059\u308b\u3002LSFC\u306f<strong>LRPPRC<\/strong>\uff08leucine-rich pentatricopeptide repeat-containing\uff09\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u751f\u3058\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\uff08OXPHOS\uff09\u30b7\u30b9\u30c6\u30e0\u306e\u3046\u3061\u3001\u7b2cIV\u8907\u5408\u4f53\uff08\u30b7\u30c8\u30af\u30ed\u30e0c\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc, COX\uff09\u306e\u7d44\u7e54\u7279\u7570\u7684\u306a\u6a5f\u80fd\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002<\/p>\n\n\n\n<p>LSFC\u306e\u60a3\u8005\u3067\u306f\u3001\u6025\u6027\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3084\u795e\u7d4c\u75c7\u72b6\u3092\u4f34\u3046\u4ee3\u8b1d\u30af\u30ea\u30fc\u30bc\u304c\u983b\u767a\u3057\u3001\u7d0480\uff05\u304c5\u6b73\u307e\u3067\u306b\u6b7b\u4ea1\u3059\u308b\u3002\u4e3b\u306b\u8133\u3068\u809d\u81d3\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u304c\u3001\u7b4b\u8089\u3084\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\u3067\u306fCOX\u6d3b\u6027\u304c\u7d0450\uff05\u4f4e\u4e0b\u3059\u308b\u3082\u306e\u306e\u3001\u5fc3\u81d3\u3084\u814e\u81d3\u306f\u307b\u307c\u6b63\u5e38\u306b\u4fdd\u305f\u308c\u308b\u3002\u3053\u306e\u7d44\u7e54\u7279\u7570\u6027\u306e\u8981\u56e0\u3068\u3057\u3066\u3001LRPPRC\u5909\u7570\u306e\u5f71\u97ff\u304c\u81d3\u5668\u3054\u3068\u306b\u7570\u306a\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u305d\u306e\u8a73\u7d30\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u672a\u89e3\u660e\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u75c5\u614b\u89e3\u660e\u306e\u305f\u3081\u3001\u60a3\u8005\u7531\u6765\u306e<strong>\u30d2\u30c8\u4eba\u5de5\u591a\u80fd\u6027\u5e79\u7d30\u80de\uff08hiPSC\uff09<\/strong> \u3092\u7528\u3044\u305f\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u7d44\u7e54\u7279\u7570\u7684\u306a\u5f71\u97ff\u3092\u89e3\u6790\u3059\u308b\u8a66\u307f\u304c\u884c\u308f\u308c\u3066\u3044\u308b\u3002LSFC\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066<strong>2003\u5e74\u306bLRPPRC\u304c\u540c\u5b9a<\/strong>\u3055\u308c\u3066\u4ee5\u6765\u3001\u591a\u304f\u306e\u7814\u7a76\u304c\u305d\u306e\u6a5f\u80fd\u3092\u660e\u3089\u304b\u306b\u3057\u3064\u3064\u3042\u308b\u3082\u306e\u306e\u3001\u73fe\u5728\u306e\u3068\u3053\u308d\u6709\u52b9\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>LSFC\u306f\u6975\u3081\u3066\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u7279\u306b\u30ab\u30ca\u30c0\u306eSLSJ\u5730\u57df\u306b\u304a\u3044\u3066\u9ad8\u983b\u5ea6\u306b\u767a\u751f\u3059\u308b\u3002\u3053\u306e\u5730\u57df\u306b\u304a\u3051\u308b\u767a\u75c7\u7387\u306f<strong>\u7d041\/2,000\u51fa\u751f<\/strong>\u3067\u3042\u308a\u3001<strong>\u4fdd\u56e0\u8005\u983b\u5ea6\u306f1\/23<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u308b\uff08Merante et al., 1993\uff09\u3002<\/p>\n\n\n\n<p>LSFC\u306f\u3001<strong>\u5e38\u67d3\u8272\u4f53\u52a3\u6027<\/strong>\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f<strong>LRPPRC\u907a\u4f1d\u5b50\u306ep.Ala354Val\u5909\u7570\u3092\u30db\u30e2\u63a5\u5408\u578b\u3067\u4fdd\u6709<\/strong>\u3057\u3066\u3044\u308b\u3002\u3053\u306e\u5909\u7570\u306f\u5275\u59cb\u8005\u52b9\u679c\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u30b1\u30d9\u30c3\u30af\u5dde\u4ee5\u5916\u3067\u3082\u3001\u30e8\u30fc\u30ed\u30c3\u30d1\u3084\u4e2d\u56fd\u306e\u5bb6\u7cfb\u306b\u304a\u3044\u3066\u3082\u72ec\u7acb\u3057\u305fLRPPRC\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\uff08Olahova et al., 2015; Han et al., 2017\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>LRPPRC\u907a\u4f1d\u5b50\uff082\u756a\u67d3\u8272\u4f53, 2p21\u9818\u57df\u306b\u4f4d\u7f6e\uff09\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2mRNA\u306e\u5b89\u5b9a\u6027\u7dad\u6301\u306b\u95a2\u4e0e\u3057\u3001OXPHOS\u8907\u5408\u4f53\u306e\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3002LSFC\u306e\u60a3\u8005\u3067\u306f\u3001<strong>LRPPRC\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u767a\u73fe\u304c\u4f4e\u4e0b\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2mRNA\u306e\u7ffb\u8a33\u304c\u969c\u5bb3\u3055\u308c\u308b<\/strong>\u305f\u3081\u3001COX\u6d3b\u6027\u304c\u7d44\u7e54\u7279\u7570\u7684\u306b\u4f4e\u4e0b\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001LRPPRC\u5909\u7570\u306b\u3088\u3063\u3066COX1, COX3, ND4, ND6\u306e\u767a\u73fe\u304c\u4f4e\u4e0b\u3057\u3001\u7d50\u679c\u3068\u3057\u3066\u76f8\u5bfe\u7684\u306a\u4f4e\u9178\u7d20\u72b6\u614b\uff08hypoxia\uff09\u3092\u8a98\u767a\u3059\u308b\u3002\u3053\u306e\u72b6\u614b\u306f<strong>NDUFA4L2\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u4e0a\u6607\u3055\u305b\u3001\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u3092\u6291\u5236\u3059\u308b\u3053\u3068\u3067\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u9178\u7d20\u6d88\u8cbb\u3092\u5236\u9650\u3059\u308b<\/strong>\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001LRPPRC\u306f\u6838\u5916mRNA\u306e\u6210\u719f\u3084\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2RNA\u306e\u5236\u5fa1\u306b\u3082\u95a2\u4e0e\u3057\u3001\u4ed6\u306e\u75be\u60a3\uff08\u5fc3\u75be\u60a3\u3001\u65e9\u767a\u6027\u5375\u5de3\u4e0d\u5168\u3001\u767a\u9054\u969c\u5bb3\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306a\u3069\uff09\u306b\u3082\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\uff08Cui et al., 2019\uff09\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>LSFC\u306f\u751f\u5f8c\u6570\u304b\u6708\u4ee5\u5185\u306b\u767a\u75c7\u3057\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u3092\u793a\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6025\u6027\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u767a\u4f5c<\/strong>\uff08\u4ee3\u8b1d\u30af\u30ea\u30fc\u30bc\uff09<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u767a\u9054\u9045\u6ede<\/strong>\uff08\u904b\u52d5\u30fb\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\uff09<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3068\u904b\u52d5\u5931\u8abf<\/strong><\/li>\n\n\n\n<li><strong>\u773c\u7403\u904b\u52d5\u7570\u5e38<\/strong>\uff08\u773c\u632f\u3001\u5916\u773c\u7b4b\u9ebb\u75fa\uff09<\/li>\n\n\n\n<li><strong>\u672b\u68a2\u795e\u7d4c\u969c\u5bb3<\/strong>\uff08\u56db\u80a2\u9ebb\u75fa\u3001\u611f\u899a\u969c\u5bb3\uff09<\/li>\n\n\n\n<li><strong>\u809d\u6a5f\u80fd\u7570\u5e38<\/strong>\uff08\u809d\u80a5\u5927\u3001\u809d\u4e0d\u5168\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u6025\u6027\u4ee3\u8b1d\u30af\u30ea\u30fc\u30bc\u306f\u9ad8\u983b\u5ea6\u3067\u767a\u751f\u3057\u3001\u7279\u306b<strong>\u611f\u67d3\u75c7\u3084\u6442\u98df\u4e0d\u826f\u306b\u7d9a\u767a<\/strong>\u3059\u308b\u3053\u3068\u304c\u591a\u3044\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><strong>\u8a3a\u65ad\u57fa\u6e96\u3068\u3057\u3066\u4ee5\u4e0b\u304c\u7528\u3044\u3089\u308c\u308b\uff1a<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u751f\u5316\u5b66\u691c\u67fb<\/strong>\uff1a\u9ad8\u4e73\u9178\u8840\u75c7\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u8a3a\u65ad\uff08MRI\uff09<\/strong>\uff1a\u8996\u5e8a\u3001\u5927\u8133\u57fa\u5e95\u6838\u3001\u8133\u5e79\u306b\u304a\u3051\u308b\u5de6\u53f3\u5bfe\u79f0\u6027\u75c5\u5909<\/li>\n\n\n\n<li><strong>\u7d44\u7e54\u5b66\u7684\u691c\u67fb<\/strong>\uff1a\u7b4b\u751f\u691c\u306b\u3088\u308bCOX\u6d3b\u6027\u4f4e\u4e0b\u306e\u78ba\u8a8d<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aLRPPRC\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790\uff08\u7279\u306bp.Ala354Val\uff09<\/li>\n<\/ol>\n\n\n\n<p>\u8fd1\u5e74\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u304c\u7b2c\u4e00\u9078\u629e\u3068\u306a\u3063\u3066\u304a\u308a\u3001\u975e\u5178\u578b\u4f8b\u306e\u8a3a\u65ad\u306b\u3082\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d<strong>LSFC\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044<\/strong>\u304c\u3001\u4ee5\u4e0b\u306e\u7ba1\u7406\u304c\u63a8\u5968\u3055\u308c\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306e\u7ba1\u7406<\/strong>\uff1a\u70ad\u9178\u6c34\u7d20\u30ca\u30c8\u30ea\u30a6\u30e0\u3084\u30b8\u30af\u30ed\u30ed\u9162\u9178\u306e\u6295\u4e0e<\/li>\n\n\n\n<li><strong>\u98df\u4e8b\u7642\u6cd5<\/strong>\uff1a\u30a8\u30cd\u30eb\u30ae\u30fc\u9700\u8981\u3092\u6291\u3048\u308b\u305f\u3081\u5c11\u91cf\u983b\u56de\u98df<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u4e88\u9632<\/strong>\uff1a\u4ee3\u8b1d\u30af\u30ea\u30fc\u30bc\u306e\u8a98\u56e0\u3068\u306a\u308b\u305f\u3081\u3001\u7a4d\u6975\u7684\u306a\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e<\/li>\n\n\n\n<li><strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u6539\u5584\u7642\u6cd5\uff08\u8a66\u9a13\u7684\u6cbb\u7642\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30c1\u30a2\u30df\u30f3\u3001\u30ea\u30dd\u9178\u3001CoQ10\u306a\u3069\u306e\u88dc\u5145\u7642\u6cd5<\/li>\n\n\n\n<li>\u5e79\u7d30\u80de\u6cbb\u7642\uff08MSC\u7642\u6cd5\uff09\u306e\u53ef\u80fd\u6027<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>hiPSC\u6280\u8853\u3092\u7528\u3044\u305f\u75be\u60a3\u30e2\u30c7\u30eb\u69cb\u7bc9\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306a<strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u7d30\u80de\u6cbb\u7642<\/strong>\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>LSFC\u306e\u4e88\u5f8c\u306f\u53b3\u3057\u304f\u3001\u60a3\u8005\u306e<strong>\u7d0480\uff05\u304c5\u6b73\u307e\u3067\u306b\u6b7b\u4ea1<\/strong>\u3059\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u4e3b\u8981\u306a\u6b7b\u56e0\u306f<strong>\u6025\u6027\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u767a\u4f5c\u304a\u3088\u3073\u795e\u7d4c\u5909\u6027<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001<strong>\u5e79\u7d30\u80de\u6cbb\u7642\u3084\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a19\u7684\u6cbb\u7642<\/strong>\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u9577\u671f\u7684\u306a\u751f\u5b58\u7387\u6539\u5584\u3078\u306e\u671f\u5f85\u304c\u9ad8\u307e\u3063\u3066\u3044\u308b\u304c\u3001\u73fe\u6642\u70b9\u3067\u306f\u78ba\u7acb\u3055\u308c\u305f\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.3389\/fped.2023.1288542\">Muthaffar, O. Y., Abdulkareem, A. A., Ashi, A., &amp; Naseer, M. I. (2023). A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: Case report. <em>Frontiers in Pediatrics<\/em>, <em>11<\/em>, 1288542. https:\/\/doi.org\/10.3389\/fped.2023.1288542<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2024.1375467\">G\u00e9linas, R., L\u00e9vesque, C., Thompson Legault, J., Rivard, M.-E., Villeneuve, L., Laprise, C., &amp; Rioux, J. D. (2024). Human induced pluripotent stem cells (Hipscs) derived cells reflect tissue specificity found in patients with Leigh syndrome French Canadian variant (Lsfc). <em>Frontiers in Genetics<\/em>, <em>15<\/em>, 1375467. https:\/\/doi.org\/10.3389\/fgene.2024.1375467<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100847\">Bchetnia, M., Tardif, J., Morin, C., &amp; Laprise, C. (2022). Expression signature of the Leigh syndrome French-Canadian type. <em>Molecular Genetics and Metabolism Reports<\/em>, <em>30<\/em>, 100847. https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100847<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/ruor.uottawa.ca\/bitstreams\/a753431e-bffc-4a75-bb2d-285c0ee91cdc\/download\">Cuillerier, A. (2022). <em>Molecular Pathophysiology and Stem Cell Treatment for Mitochondrial Diseases: Insights from the French-Canadian Variant of Leigh Syndrome<\/em> (Doctoral dissertation, Universit\u00e9 d&#8217;Ottawa\/University of Ottawa).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.21203\/rs.3.rs-604677\/v1\">Sun, G., Ma, Y., Hou, X., &amp; Zhou, Z. (2021). <em>Atypical leigh syndrome diagnosed in an infant with prominent cardiac hypertrophy as initial symptom: A case report with novel lrpprc variants<\/em>. https:\/\/doi.org\/10.21203\/rs.3.rs-604677\/v1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1017\/cts.2023.417\">Palacios, B., Ren, J., &amp; Hu, J. (2023). 381 The role of leucine-rich PPR motif-containing protein (Lrpprc) in myelin lipid metabolism. <em>Journal of Clinical and Translational Science<\/em>, <em>7<\/em>(s1), 113\u2013113. https:\/\/doi.org\/10.1017\/cts.2023.417<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30ea\u30fc\u75c7\u5019\u7fa4, \u30d5\u30ec\u30f3\u30c1\u30fb\u30ab\u30ca\u30c7\u30a3\u30a2\u30f3\u578b, LSFC, LRPPRC, \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5, \u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9, OXPHOS\u7570\u5e38, \u30b7\u30c8\u30af\u30ed\u30e0c\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc, \u4ee3\u8b1d\u30af\u30ea\u30fc\u30bc, \u907a\u4f1d\u5b50\u8a3a\u65ad, \u5e79\u7d30\u80de\u6cbb\u7642, \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u6539\u5584<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":27,"template":"page_gd.php","class_list":["post-33792","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\/33792","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33792\/revisions"}],"predecessor-version":[{"id":127760,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33792\/revisions\/127760"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33792"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}