Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
- 23 July 2002
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 59 (2), 284-287
- https://doi.org/10.1212/wnl.59.2.284
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.Keywords
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