{"id":724,"date":"2015-01-21T01:11:13","date_gmt":"2015-01-21T01:11:13","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=724"},"modified":"2026-02-25T01:14:23","modified_gmt":"2026-02-25T01:14:23","slug":"mutations-in-coa3-cause-isolated-complex-iv-deficiency-associated-with-neuropathy-exercise-intolerance-obesity-and-short-stature","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/01\/21\/mutations-in-coa3-cause-isolated-complex-iv-deficiency-associated-with-neuropathy-exercise-intolerance-obesity-and-short-stature\/","title":{"rendered":"Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature (Contributed by Dr. Elsebet Ostergaard)"},"content":{"rendered":"

Defects in complex IV of the respiratory chain may result in a variety of phenotypes and be caused by mutations in 20 genes, most of which are involved in assembly of the complex. Here, we have for the first time identified mutations in COA3<\/em> as a cause of complex IV deficiency in a patient with neuropathy, exercise intolerance, obesity and short stature. The mutations were identified by whole exome sequencing. COA3<\/em> encodes a protein that is involved in the early assembly of complex IV, and likely functions in a complex that stabilizes a COX1 assembly intermediate. (http:\/\/jmg.bmj.com\/content\/early\/2015\/01\/20\/jmedgenet-2014-102914<\/a>)<\/p>\n","protected":false},"excerpt":{"rendered":"

Defects in complex IV of the respiratory chain may result in a variety of phenotypes and be caused by mutations in 20 genes, most of which are involved in assembly of the complex. Here, we have for the first time identified mutations in COA3 as a cause of complex IV deficiency in a patient with […]<\/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-724","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature (Contributed by Dr. Elsebet Ostergaard) - 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\/2015\/01\/21\/mutations-in-coa3-cause-isolated-complex-iv-deficiency-associated-with-neuropathy-exercise-intolerance-obesity-and-short-stature\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature (Contributed by Dr. Elsebet Ostergaard) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Defects in complex IV of the respiratory chain may result in a variety of phenotypes and be caused by mutations in 20 genes, most of which are involved in assembly of the complex. 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