Congenital myopathy with cores and rods
Last modified: 19th August 2022
Theoretical association with:
A rare myopathy related to recessive RYR1 mutations.
Compound heterozygosity (triplet of RYR1 variants in one allele and fourth RYR1 variant on the other allele) has previously resulted in a complex phenotype of MH and myopathy with cores and rods.
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy
Neuromuscular Disorders 2015