Compound Heterozygous <i>RYR1</i> Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive <i>RYR1</i>-Related Myopathy.

ABSTRACT: Pathogenic variants in the ryanodine receptor 1 (RYR1) gene are causative for a wide spectrum of muscular phenotypes, ranging from malignant hyperthermia over mild, non-progressive to severe congenital myopathy. Both autosomal dominant and recessive inheritance can occur, with the more severe forms usually showing recessive inheritance. However, genotype-phenotype correlations are complicated due to the large size of the gene and heterogeneous phenotypes. We present a 6-year-old patient with severe congenital myopathy, carrying a heterozygous pathogenic RYR1 variant inherited from the healthy mother. Through whole genome sequencing we identified a second, deep intronic RYR1 variant that has recently been described in another patient with severe congenital myopathy and

SUBMITTER: Janßen S 

PROVIDER: S-EPMC11477233 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature