{"id":223,"date":"2014-10-12T12:43:58","date_gmt":"2014-10-12T12:43:58","guid":{"rendered":"https:\/\/docneuro.jz7sunfr-liquidwebsites.com\/mitochondrial-myopathy\/"},"modified":"2020-01-26T11:46:40","modified_gmt":"2020-01-26T17:46:40","slug":"mitochondrial-myopathy","status":"publish","type":"post","link":"https:\/\/docneuro.com\/mitochondrial-myopathy\/","title":{"rendered":"Mitochondrial myopathy"},"content":{"rendered":"<p>Mitochondrial myopathy can be caused by metabolic abnormalities related to mutations in the mitochondrial genome or mutations in the somatic genome that produce abnormal mitochondrial proteins.<\/p>\n<p><!--more--><\/p>\n<h2>Pathologic findings in mitochondrial myopathy<\/h2>\n<p>The classic findings of a mitochondrial myopathy on muscle biopsy are shown in the images below. These include:<\/p>\n<ul>\n<li>Ragged red fibers. This appearance is due to the accumulation of abnormal mitochondria around the periphery of muscle fibers. These are visible on both H&amp;E stain and trichrome stain.<\/li>\n<li>Decreased or absent staining of the mitochondrial enzyme cytochrome oxidase.<\/li>\n<\/ul>\n<figure><img decoding=\"async\" class=\" size-full wp-image-501\" title=\"Mitochondrial myopathy muscle biopsy\" src=\"https:\/\/docneuro.com\/wp-content\/uploads\/2014\/10\/Mitochondrial-myopathy.png\" alt=\"Mitochondrial myopathy seen on H&amp;E stain, trichrome stain, CO stain\" width=\"500\" srcset=\"https:\/\/docneuro.com\/wp-content\/uploads\/2014\/10\/Mitochondrial-myopathy.png 723w, https:\/\/docneuro.com\/wp-content\/uploads\/2014\/10\/Mitochondrial-myopathy-300x276.png 300w\" sizes=\"(max-width: 723px) 100vw, 723px\" \/><figcaption>The classic pathological findings of mitochondrial myopathy are shown, including ragged red fibers on H&amp;E and trichrome stain and absent cytochrome oxidase staining.<\/figcaption><\/figure>\n<p>The inheritance of mitochondrial disorders is non-Mendelian since some mitochondrial proteins are carried in the mitochondrial genome (maternal inheritance) but others are carried in the somatic genome (allowing for autosomal dominant or recessive inheritance, or sex-linked inheritance).<\/p>\n<p>Moreover, expression of the abnormal proteins can be patchy if the mutation is mitochondrial. Since some of the mitochondria in a cell are normal and others are abnormal the extent of dysfunction in a cell lineage depends on how the abnormal mitochondria distribute during cell division. In siblings with the same mutation the effect can be wildly different.<\/p>\n<p>The most common mitochondrial abnormalities share several features, including short stature, ophthalmoplegias, and myopathy, although in varying degrees. These disorders include:<\/p>\n<ul>\n<li>MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome).<\/li>\n<li>MERRF (Myoclonic epilepsy and ragged-red fibers).<\/li>\n<li>Kearns-Sayre syndrome (presents typically before age 20 with cardiac conduction abnormalities and hearing loss).<\/li>\n<\/ul>\n<p>These mitochondrial myopathies are rare, estimated to have an overall prevalence of 1-2:10,000, although tis is is an order of magnitude more common that some myopathic disorders like <a href=\"https:\/\/docneuro.com\/mcardle-disease\/\">McArdle&#8217;s disease<\/a>.<\/p>\n<p><i>Images courtesy of Dr. Lei Zhao, Dr. Jerry Wong, and Dr. Peter Pytel at the University of Chicago.<\/i><\/p>\n<p><strong>References<\/strong><\/p>\n<p><a href=\"https:\/\/rarediseases.org\/physician-guide\/mitochondrial-myopathy\/\">Mitochondrial myopathy (MM)<\/a>. NORD.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mitochondrial myopathy can be caused by metabolic abnormalities related to mutations in the mitochondrial genome or mutations in the somatic genome that produce abnormal mitochondrial proteins.<\/p>\n","protected":false},"author":2,"featured_media":501,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[21],"tags":[535,533,534,536,538,537,532],"aioseo_notices":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Mitochondrial myopathy - DocNeuro<\/title>\n<meta name=\"description\" content=\"Clinical presentation and pathology of mitochondrial myopathy, with genetic abnormalities in either the somatic or mitochondrial genome.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/docneuro.com\/mitochondrial-myopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mitochondrial myopathy - DocNeuro\" \/>\n<meta property=\"og:description\" content=\"Clinical presentation and pathology of mitochondrial myopathy, with genetic abnormalities in either the somatic or mitochondrial genome.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/docneuro.com\/mitochondrial-myopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"DocNeuro\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/DocNeuro\/\" \/>\n<meta property=\"article:published_time\" content=\"2014-10-12T12:43:58+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2020-01-26T17:46:40+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/docneuro.com\/wp-content\/uploads\/2014\/10\/Mitochondrial-myopathy.png\" \/>\n\t<meta property=\"og:image:width\" content=\"723\" \/>\n\t<meta property=\"og:image:height\" content=\"665\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Naoum P. 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