P.230Phenotype and pathological variability in RYR1-related myopathy with compound heterozygous variants in Japan

Mutations in RYR1 are often associated with central core disease, and are also the most common cause of other congenital myopathies (CMs) such as multi-minicore disease, CFTD (congenital fiber type disproportion) and centronuclear myopathy (CNM). There is an increasing interest in the clinical variability and pathologic overlap among these CMs due to RYR1 mutations. In addition, it has been reported that the compound heterozygous RYR1 mutations can cause more severe phenotype compared to the autosomal dominant cases.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: A. Ozaki, A. Ishiyama, E. Takeshita, Y. Shimizu-Motohashi, H. Komaki, S. Noguchi, I. Nishino, M. Sasaki Source Type: research