{"id":242,"date":"2011-12-20T20:15:56","date_gmt":"2011-12-20T20:15:56","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=242"},"modified":"2026-02-25T20:47:17","modified_gmt":"2026-02-25T20:47:17","slug":"complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/20\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\/","title":{"rendered":"Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy (Contributed by Andoni Echaniz-Laguna)"},"content":{"rendered":"<p>Mitochondrial disorders are a significant cause of morbidity and mortality in the population. Here, we describe an adult patient with autosomal recessive myopathy and cardiomyopathy resulting from a complete loss of expression of the ADP\/ATP translocase 1 (ANT1), a mitochondrial molecule which mediates ADP\/ATP exchange between cytosol and mitochondria through the inner mitochondrial membrane. Skeletal muscle showed a dramatic proliferation of abnormal mitochondria, increased mitochondrial mass, and multiple mitochondrial DNA deletions. The patient\u2019s heterozygous mother had normal clinical and pathological features. This report emphasizes the crucial role of the mitochondrial ADP\/ATP carriers in muscle function and pathophysiology of human myopathies. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/12\/19\/jmedgenet-2011-100504.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/12\/19\/jmedgenet-2011-100504.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mitochondrial disorders are a significant cause of morbidity and mortality in the population. Here, we describe an adult patient with autosomal recessive myopathy and cardiomyopathy resulting from a complete loss of expression of the ADP\/ATP translocase 1 (ANT1), a mitochondrial molecule which mediates ADP\/ATP exchange between cytosol and mitochondria through the inner mitochondrial membrane. Skeletal [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/20\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\/\">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-242","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>Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy (Contributed by Andoni Echaniz-Laguna) - 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\/2011\/12\/20\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy (Contributed by Andoni Echaniz-Laguna) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mitochondrial disorders are a significant cause of morbidity and mortality in the population. Here, we describe an adult patient with autosomal recessive myopathy and cardiomyopathy resulting from a complete loss of expression of the ADP\/ATP translocase 1 (ANT1), a mitochondrial molecule which mediates ADP\/ATP exchange between cytosol and mitochondria through the inner mitochondrial membrane. Skeletal [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/20\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-12-20T20:15:56+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:47:17+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\\\/2011\\\/12\\\/20\\\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/20\\\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy (Contributed by Andoni Echaniz-Laguna)\",\"datePublished\":\"2011-12-20T20:15:56+00:00\",\"dateModified\":\"2026-02-25T20:47:17+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/20\\\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\\\/\"},\"wordCount\":129,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/20\\\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/20\\\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/20\\\/complete-loss-of-expression-of-the-ant1-gene-causing-cardiomyopathy-and-myopathy\\\/\",\"name\":\"Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy (Contributed by Andoni Echaniz-Laguna) - 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