{"id":919,"date":"2016-09-06T18:31:59","date_gmt":"2016-09-06T18:31:59","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=919"},"modified":"2026-02-24T21:22:07","modified_gmt":"2026-02-24T21:22:07","slug":"targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/09\/06\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\/","title":{"rendered":"Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders (Contributed by Dr. Satomi Mitsuhashi)"},"content":{"rendered":"<p>Establishment of a comprehensive diagnostic system for patients with inherited myopathies is challenging because of their genetic heterogeneity. In this paper, we introduced our genetic diagnostic system using four target gene panels, each covering all exonic and flanking regions of genes associated with 1) muscular dystrophy, 2) congenital myopathy\/congenital myasthenic syndrome, 3) metabolic myopathy, and 4) myopathy with protein aggregations\/rimmed vacuoles, combined with comprehensive muscle histological, mRNA, and protein analyses. Our study indicates that targeted gene panels are cost- and time- effective and useful for screening pathogenic variants and for giving molecular diagnosis to the patients with inherited myopathies. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/09\/06\/jmedgenet-2016-104073\">http:\/\/jmg.bmj.com\/content\/early\/2016\/09\/06\/jmedgenet-2016-104073<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/09\/Nihsikawa.jpeg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-920\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/09\/Nihsikawa-232x300.jpeg\" alt=\"Nihsikawa\" width=\"232\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/09\/Nihsikawa-232x300.jpeg 232w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/09\/Nihsikawa-768x994.jpeg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/09\/Nihsikawa-791x1024.jpeg 791w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/09\/Nihsikawa-300x388.jpeg 300w\" sizes=\"auto, (max-width: 232px) 100vw, 232px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Establishment of a comprehensive diagnostic system for patients with inherited myopathies is challenging because of their genetic heterogeneity. In this paper, we introduced our genetic diagnostic system using four target gene panels, each covering all exonic and flanking regions of genes associated with 1) muscular dystrophy, 2) congenital myopathy\/congenital myasthenic syndrome, 3) metabolic myopathy, and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/09\/06\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-919","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders (Contributed by Dr. Satomi Mitsuhashi) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/09\/06\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders (Contributed by Dr. Satomi Mitsuhashi) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Establishment of a comprehensive diagnostic system for patients with inherited myopathies is challenging because of their genetic heterogeneity. In this paper, we introduced our genetic diagnostic system using four target gene panels, each covering all exonic and flanking regions of genes associated with 1) muscular dystrophy, 2) congenital myopathy\/congenital myasthenic syndrome, 3) metabolic myopathy, and [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/09\/06\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-09-06T18:31:59+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:22:07+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/09\/Nihsikawa.jpeg\" \/>\n\t<meta property=\"og:image:width\" content=\"2550\" \/>\n\t<meta property=\"og:image:height\" content=\"3300\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/09\\\/06\\\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/09\\\/06\\\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders (Contributed by Dr. Satomi Mitsuhashi)\",\"datePublished\":\"2016-09-06T18:31:59+00:00\",\"dateModified\":\"2026-02-24T21:22:07+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/09\\\/06\\\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/09\\\/06\\\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2016\\\/09\\\/Nihsikawa-232x300.jpeg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/09\\\/06\\\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/09\\\/06\\\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/09\\\/06\\\/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders\\\/\",\"name\":\"Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders (Contributed by Dr. Satomi Mitsuhashi) - 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