G.P.48 Genotype–phenotype correlations in recessive RYR1-related myopathies

BackgroundMutations in RYR1 are the most common overall cause of congenital myopathy. Dominant mutations are most often associated with central core disease and malignant hyperthermia. Several genotype–phenotype correlations have been identified for these mutations, while less is known about recessive mutations. Thus far, no systematic examinations on recessive mutations have been performed.MethodsA large cohort of 106 recessive RYR1 cases was …