RYR1 causing distal myopathy

ConclusionWe expand the spectrum of RYR1‐related myopathy with the description of a novel phenotype in an adult patient presenting with hand weakness and suggest considering RYR1 analysis in the diagnosis of distal myopathies. We describe a patient with distal myopathy and jaw contractures due to RYR1 variants. Our findings suggest that RYR1 gene analysis should be included in the list of genes causative of distal myopathies.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Clinical Report Source Type: research