{"id":2138,"date":"2026-01-01T00:15:01","date_gmt":"2026-01-01T00:15:01","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2138"},"modified":"2026-02-22T00:12:20","modified_gmt":"2026-02-22T00:12:20","slug":"novel-in-frame-variant-in-des-p-glu353dup-causes-myofibrillar-myopathy-clinical-in-silico-and-functional-studies","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/01\/01\/novel-in-frame-variant-in-des-p-glu353dup-causes-myofibrillar-myopathy-clinical-in-silico-and-functional-studies\/","title":{"rendered":"Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies (Contributed by Dr. Lucia N. Moro)"},"content":{"rendered":"<p>Desmin (DES) is a key protein that helps muscle cells maintain their structure and function. In this study, we identified and characterized a previously unknown mutation in DES in an Argentine family affected by a muscle disease. Unlike most known DES mutations, this alteration is a small insertion whose disease-causing role was unclear. By combining clinical data, advanced computer modeling, and laboratory experiments, we demonstrated that this variant disrupts how desmin molecules assemble, leading to abnormal protein aggregation in muscle cells. This work provides evidence for a disease mechanism in desmin-related disorders and improves the interpretation of rare genetic variants. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2025\/12\/31\/jmg-2025-110852\">https:\/\/jmg.bmj.com\/content\/early\/2025\/12\/31\/jmg-2025-110852<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Desmin (DES) is a key protein that helps muscle cells maintain their structure and function. In this study, we identified and characterized a previously unknown mutation in DES in an Argentine family affected by a muscle disease. Unlike most known DES mutations, this alteration is a small insertion whose disease-causing role was unclear. By combining [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2026\/01\/01\/novel-in-frame-variant-in-des-p-glu353dup-causes-myofibrillar-myopathy-clinical-in-silico-and-functional-studies\/\">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-2138","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies (Contributed by Dr. Lucia N. Moro) - 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\/2026\/01\/01\/novel-in-frame-variant-in-des-p-glu353dup-causes-myofibrillar-myopathy-clinical-in-silico-and-functional-studies\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies (Contributed by Dr. Lucia N. Moro) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Desmin (DES) is a key protein that helps muscle cells maintain their structure and function. In this study, we identified and characterized a previously unknown mutation in DES in an Argentine family affected by a muscle disease. Unlike most known DES mutations, this alteration is a small insertion whose disease-causing role was unclear. By combining [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/01\/01\/novel-in-frame-variant-in-des-p-glu353dup-causes-myofibrillar-myopathy-clinical-in-silico-and-functional-studies\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-01-01T00:15:01+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:12:20+00:00\" \/>\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\\\/2026\\\/01\\\/01\\\/novel-in-frame-variant-in-des-p-glu353dup-causes-myofibrillar-myopathy-clinical-in-silico-and-functional-studies\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/01\\\/01\\\/novel-in-frame-variant-in-des-p-glu353dup-causes-myofibrillar-myopathy-clinical-in-silico-and-functional-studies\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies (Contributed by Dr. Lucia N. 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