{"id":1822,"date":"2023-01-13T15:51:32","date_gmt":"2023-01-13T15:51:32","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1822"},"modified":"2026-02-23T00:20:22","modified_gmt":"2026-02-23T00:20:22","slug":"genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/01\/13\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\/","title":{"rendered":"Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events (Contributed by Alba Segarra Casas)"},"content":{"rendered":"

Duchenne and Becker muscular dystrophy (DMD\/BMD), caused by mutations in the DMD<\/em> gene, are characterized by the presence of progressive muscle weakness. DMD is the most severe form of the disease, leading to significant disability, and is the most common neuromuscular disorder in childhood. For these patients, it is essential to obtain a precise genetic diagnosis to offer them appropriate genetic and reproductive counselling and be eligible to gene therapies. However, up to 7% of patients with DMD\/BMD remain genetically undiagnosed after genetic testing in the clinical practice. In this work we evaluate the presence of alterations in the mRNA of the DMD<\/em> gene in undiagnosed DMD\/BMD patients and we report new findings that could facilitate the diagnosis in future patients. \u00a0\u00a0(https:\/\/jmg.bmj.com\/content\/early\/2022\/12\/18\/jmg-2022-108828<\/a> )<\/p>\n

\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Duchenne and Becker muscular dystrophy (DMD\/BMD), caused by mutations in the DMD gene, are characterized by the presence of progressive muscle weakness. DMD is the most severe form of the disease, leading to significant disability, and is the most common neuromuscular disorder in childhood. For these patients, it is essential to obtain a precise genetic […]<\/p>\n

Read More…<\/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-1822","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nGenetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events (Contributed by Alba Segarra Casas) - 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\/2023\/01\/13\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events (Contributed by Alba Segarra Casas) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Duchenne and Becker muscular dystrophy (DMD\/BMD), caused by mutations in the DMD gene, are characterized by the presence of progressive muscle weakness. DMD is the most severe form of the disease, leading to significant disability, and is the most common neuromuscular disorder in childhood. For these patients, it is essential to obtain a precise genetic [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/01\/13\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-01-13T15:51:32+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:20:22+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/01\/IMG-20220929-WA0005.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2048\" \/>\n\t<meta property=\"og:image:height\" content=\"1362\" \/>\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\\\/2023\\\/01\\\/13\\\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/13\\\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events (Contributed by Alba Segarra Casas)\",\"datePublished\":\"2023-01-13T15:51:32+00:00\",\"dateModified\":\"2026-02-23T00:20:22+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/13\\\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\\\/\"},\"wordCount\":150,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/13\\\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/01\\\/IMG-20220929-WA0005-300x200.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/13\\\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/13\\\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/13\\\/genetic-diagnosis-of-duchenne-and-becker-muscular-dystrophy-through-mrna-analysis-new-splicing-events\\\/\",\"name\":\"Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events (Contributed by Alba Segarra Casas) - 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