{"id":688,"date":"2014-10-18T00:48:13","date_gmt":"2014-10-18T00:48:13","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=688"},"modified":"2026-02-25T19:39:02","modified_gmt":"2026-02-25T19:39:02","slug":"clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/18\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\/","title":{"rendered":"Clinical, histological and genetic characterization of patients with tubular aggregate myopathy caused by mutations in STIM1 (Contributed by Dr. Johann B\u00f6hm)"},"content":{"rendered":"<p>Tubular aggregate myopathies (TAM) are progressive muscle disorders characterized by abnormal accumulations of densely packed membrane tubules on biopsies. The implicated gene STIM1 controls intracellular calcium balance and plays an important role in the regulation of muscle contraction. Here we describe patients with new STIM1 mutations clustering the calcium-binding domain and impairing normal protein function. Patient phenotypes ranged from childhood onset muscle weakness to adult-onset myalgia without muscle weakness, expanding the spectrum associated with this muscle disorder. Our study indicates a genotype\/phenotype correlation for tubular aggregate myopathies, and has an important diagnostic relevance. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/10\/17\/jmedgenet-2014-102623\">http:\/\/jmg.bmj.com\/content\/early\/2014\/10\/17\/jmedgenet-2014-102623<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/Presentation1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-689\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/Presentation1-300x225.jpg\" alt=\"Presentation1\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/Presentation1-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/Presentation1-1024x768.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tubular aggregate myopathies (TAM) are progressive muscle disorders characterized by abnormal accumulations of densely packed membrane tubules on biopsies. The implicated gene STIM1 controls intracellular calcium balance and plays an important role in the regulation of muscle contraction. Here we describe patients with new STIM1 mutations clustering the calcium-binding domain and impairing normal protein function. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/18\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\/\">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-688","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Clinical, histological and genetic characterization of patients with tubular aggregate myopathy caused by mutations in STIM1 (Contributed by Dr. Johann B\u00f6hm) - 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\/2014\/10\/18\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical, histological and genetic characterization of patients with tubular aggregate myopathy caused by mutations in STIM1 (Contributed by Dr. Johann B\u00f6hm) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Tubular aggregate myopathies (TAM) are progressive muscle disorders characterized by abnormal accumulations of densely packed membrane tubules on biopsies. The implicated gene STIM1 controls intracellular calcium balance and plays an important role in the regulation of muscle contraction. Here we describe patients with new STIM1 mutations clustering the calcium-binding domain and impairing normal protein function. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/18\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-10-18T00:48:13+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:39:02+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2014\/10\/Presentation1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"3000\" \/>\n\t<meta property=\"og:image:height\" content=\"2250\" \/>\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\\\/2014\\\/10\\\/18\\\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/18\\\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Clinical, histological and genetic characterization of patients with tubular aggregate myopathy caused by mutations in STIM1 (Contributed by Dr. Johann B\u00f6hm)\",\"datePublished\":\"2014-10-18T00:48:13+00:00\",\"dateModified\":\"2026-02-25T19:39:02+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/18\\\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\\\/\"},\"wordCount\":124,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/18\\\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2014\\\/10\\\/Presentation1-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/18\\\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/18\\\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/18\\\/clinical-histological-and-genetic-characterization-of-patients-with-tubular-aggregate-myopathy-caused-by-mutations-in-stim1\\\/\",\"name\":\"Clinical, histological and genetic characterization of patients with tubular aggregate myopathy caused by mutations in STIM1 (Contributed by Dr. Johann B\u00f6hm) - 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