{"id":623,"date":"2014-01-13T20:06:18","date_gmt":"2014-01-13T20:06:18","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=623"},"modified":"2014-01-13T20:06:18","modified_gmt":"2014-01-13T20:06:18","slug":"a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/01\/13\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\/","title":{"rendered":"A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation"},"content":{"rendered":"<p>KCNJ11 encodes an important component of the potassium channel that plays a critical role in regulating the response of beta cells in the pancrease to changes in blood glucose level.\u00a0 Mutations in this gene can cause inappropriately reduced or elevated insulin secretion.\u00a0 In a large and extended consanguineous Saudi family, we show for the first time that mutation in KCNJ11 can result not only in congenital hyperinsulinism, but can also lead to vulnerability of skeletal muscles to undergo necrosis in response to strenuous exercise (rhabdomyolysis).\u00a0 Our report expands the phenotype associated with KCNJ11 mutation in humans. (By Dr Fowzan S Alkuraya, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/13\/jmedgenet-2013-102085\">http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/13\/jmedgenet-2013-102085<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>KCNJ11 encodes an important component of the potassium channel that plays a critical role in regulating the response of beta cells in the pancrease to changes in blood glucose level.\u00a0 Mutations in this gene can cause inappropriately reduced or elevated insulin secretion.\u00a0 In a large and extended consanguineous Saudi family, we show for the first [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/01\/13\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-623","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/623","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=623"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/623\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=623"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=623"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=623"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}