Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

CONCLUSIONS: We have identified a novel compound heterozygous RYR1 mutation and demonstrated clinical and pathologic findings in five Korean patients with RYR1-related CM. PMID: 29629541 [PubMed]

https://www.ncbi.nlm.nih.gov/pubmed/29629541?dopt=Abstract

Source: Journal of Clinical Neurology - April 10, 2018 Category: Neurology Tags: J Clin Neurol Source Type: research