Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
case_series · Level IV
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Abstract
Central core disease (CCD) is a congenital myopathy due to dominant mutations in the skeletal muscle ryanodine receptor gene (RYR1). The authors report three patients from two consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy, and confirmed linkage to the RYR1 locus. Molecular genetic studies in one family identified a V4849I homozygous missense mutation in the RYR1 gene. This report suggests a congenital myopathy associated with recessive RYR1 mutations.
Medical subject headings
- Muscle, Skeletal
- Muscular Diseases
- Mutation, Missense
- Ryanodine Receptor Calcium Release Channel