Congenital myopathies: general and ryr1

Mutations in genes that impair sarcomeric force generation and affect muscle contraction cause myopathies of variable severity. TNNC2 encodes fast skeletal troponin C, an important component of the troponin complex, for which human disease mutations have not yet been reported. Here we report two families with a distinct, dominantly-inherited congenital myopathy with rare, heterozygous, predicted-to-be-damaging mutations in TNNC2. Patient 1 (P1) of Family 1 (F1) is a 26-year-old male who presented with maternal polyhydramnios treated with serial amniocenteses, significant congenital onset weakness, vocal cord paralysis and respiratory insufficiency requiring tracheostomy until 4 years, severe gastroesophageal reflux, requiring G-tube feeding until 16 years, ptosis, and ophthalmoplegia.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: S. Donkervoort, P. Mohassel, N. Voermans, C. Quinn, M. van de Locht, J. de Winter, S. Conijn, M. Helmes, L. Medne, O. Lopes Abath Neto, S. Moore, C. Ottenheijm, A.R. Foley, C. B önnemann Source Type: research