Congenital myopathy associated with the Triadin knockout syndrome


Triadin is a component of the calcium release complex of cardiac and skeletal muscle. Its main function is to anchor calsequestrin, a Ca2+ storing protein, in the lateral cisternae of the sarcoplasmic reticulum (SR). Mutations abrogating triadin function cause cardiac arrhythmias associated with abnormally prolonged QT interval, inverted precordial T-waves, and in some patients with muscle weakness. We here describe the findings in skeletal muscle of a 5-year old boy with lifelong muscle weakness and a long-QT syndrome caused by two null mutations in triadin.


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