Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?

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TTN encodes titin, the largest human protein. In striated muscle two titin molecules align head-to-head along the sarcomere to modulate resting tension, contractile force and elasticity. Recessively inherited loss-of-function TTN mutations cause congenital titinopathy, an early-onset muscle disorder frequently complicated by truncal deformities and cardiorespiratory abnormalities. To further-expand our understanding of this disorder, we recently ascertained a cohort of 30 patients from 27 families with congenital titinopathy due to recessively inherited nonsense, frameshift and/or splice site mutations, and subsequently analysed the clinical features of cohort members.

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