An unusual ryanodine receptor 1 (RYR1) phenotype

Abstract

Our findings expand the spectrum of <i>RYR1</i>-related disorders to include a calf-predominant myopathy with core pathology and autosomal dominant inheritance. Two families had unique and previously unreported <i>RYR1</i> mutations, while affected persons in the third family carried 2 previously known mutations in the same dominant allele.