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Case Reports
. 2002 Jul 23;59(2):284-7.
doi: 10.1212/wnl.59.2.284.

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

H Jungbluth  1 , 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
Affiliations
Case Reports

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

H Jungbluth et al. Neurology. .

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.

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