Congenital myopathies: general and ryr1

We describe three siblings with CFZS who are compound heterozygous for a recurrent variant in MYMK, p.(Pro91Thr) and a novel variant p.(Trp79Arg).

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: C. Hedberg-Oldfors, C. Lindberg, A. Oldfors Source Type: research