| Literature DB >> 12136074 |
H Jungbluth1, C R Müller, B Halliger-Keller, M Brockington, S C Brown, L Feng, A Chattopadhyay, E Mercuri, A Y Manzur, A Ferreiro, N G Laing, M R Davis, H P Roper, V Dubowitz, G Bydder, C A Sewry, F Muntoni.
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.Entities:
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Year: 2002 PMID： 12136074 DOI： 10.1212/wnl.59.2.284
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910