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Article

Autosomal recessive inheritance of <i>RYR1</i> mutations in a congenital myopathy with cores

23 Jul 2002

Abstract excerpt

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...

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Identifiers

PMID: 12136074
DOI: 10.1212/wnl.59.2.284

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Autosomal recessive inheritance of <i>RYR1</i> mutations in a congenital myopathy with coresPMID 12136074Read ↗

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