{"id":1909,"date":"2023-11-08T13:33:44","date_gmt":"2023-11-08T13:33:44","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1909"},"modified":"2026-02-22T23:51:02","modified_gmt":"2026-02-22T23:51:02","slug":"titin-copy-number-variations-associated-with-dominant-inherited-phenotypes","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/08\/titin-copy-number-variations-associated-with-dominant-inherited-phenotypes\/","title":{"rendered":"Titin copy number variations associated with dominant inherited phenotypes (Contributed by Dr. Aur\u00e9lien Perrin)"},"content":{"rendered":"

Titinopathies, are complex neuromuscular disorders resulting from TTN gene mutations with diverse symptoms and inheritance modes. This study focused on eight families with dominant titinopathies. We employed next genetation sequencing on DNA and RNA to identify and characterize TTN gene copy number variations (CNVs). These analyses in patients’ muscles revealed seven deletions CNVs. The prevalent phenotype was distal myopathy with contractures. The study’s integrated clinicobiological data allowed the establishment of new genotype-phenotype associations for titinopathies, primarily distal myopathy. Detecting TTN CNVs enhances diagnostic sensitivity in these complex neuromuscular disorders. (https:\/\/jmg.bmj.com\/content\/early\/2023\/11\/07\/jmg-2023-109473<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Titinopathies, are complex neuromuscular disorders resulting from TTN gene mutations with diverse symptoms and inheritance modes. This study focused on eight families with dominant titinopathies. We employed next genetation sequencing on DNA and RNA to identify and characterize TTN gene copy number variations (CNVs). These analyses in patients’ muscles revealed seven deletions CNVs. The prevalent […]<\/p>\n

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This study focused on eight families with dominant titinopathies. We employed next genetation sequencing on DNA and RNA to identify and characterize TTN gene copy number variations (CNVs). These analyses in patients’ muscles revealed seven deletions CNVs. The prevalent [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/08\/titin-copy-number-variations-associated-with-dominant-inherited-phenotypes\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-11-08T13:33:44+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:51:02+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\\\/2023\\\/11\\\/08\\\/titin-copy-number-variations-associated-with-dominant-inherited-phenotypes\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/11\\\/08\\\/titin-copy-number-variations-associated-with-dominant-inherited-phenotypes\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Titin copy number variations associated with dominant inherited phenotypes (Contributed by Dr. Aur\u00e9lien Perrin)\",\"datePublished\":\"2023-11-08T13:33:44+00:00\",\"dateModified\":\"2026-02-22T23:51:02+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/11\\\/08\\\/titin-copy-number-variations-associated-with-dominant-inherited-phenotypes\\\/\"},\"wordCount\":113,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/11\\\/08\\\/titin-copy-number-variations-associated-with-dominant-inherited-phenotypes\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/11\\\/08\\\/titin-copy-number-variations-associated-with-dominant-inherited-phenotypes\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/11\\\/08\\\/titin-copy-number-variations-associated-with-dominant-inherited-phenotypes\\\/\",\"name\":\"Titin copy number variations associated with dominant inherited phenotypes (Contributed by Dr. Aur\u00e9lien Perrin) - 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