Congenital myopathies: general and ryr1

Tropomyosin 3 encoded by the TPM3 gene is a member of the acting binding tropomyosin family, a component of the sarcomeric thin filaments troponin/ tropomyosin complex that is essential in muscle contraction by regulating the calcium dependent binding of the myosin head to the actin filament. Mutations in TPM3 cause a clinical and histopathological heterogeneous group of neuromuscular disorders characterized by congenital hypotonia and weakness that includes cap myopathy, congenital fiber type disproportion and nemaline myopathy.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: C. Camelo, A. Da Silva, U. Reed, C. B önnemann, E. Zanoteli Source Type: research