Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Article Details
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Jungbluth H, Muller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Neurology. 2002 Jul 23;59(2):284-7.
- PubMed ID
- 12136074 [ View in PubMed]
- 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.