Congenital myopathies: general and ryr1

RYR1 gene mutations cause heterogeneous myopathies, including dominantly inherited central core disease (CCD), recessive multi-minicore and centronuclear myopathies, rhabdomyolysis and susceptibility to malignant hyperthermia (MH). RYR1-related myopathy (RRM) is the most common congenital myopathy in the UK, and is characterized by a wide range of clinical presentations. Here we present a retrospective study on a large paediatric cohort of RRM patients regularly seen at the Dubowitz Neuromuscular Centre in London.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: M. Sa, M. DiStefano, R. Mein, R. Phadke, L. Feng, P. Munot, R. Quinlivan, A. Manzur, S. Robb, M. Main, C. Sewry, A. Sarkozy, F. Muntoni Source Type: research