P.4.14 A novel mutation in RYR1 gene for central core disease in a Chinese family

Abstract

Central core disease (CCD) is a mild, non-progressive or slowly progressive congenital myopathy with proximal symmetrical muscle weakness. CCD is transmitted as an autosomal dominant or recessive trait and at least one gene responsible is the ryanodine receptor gene at chromosome 19q13.1. Here we report the clinical and myopathological changes in a Chinese family with central core disease in an autosomal dominant pattern. The proband showed early onset congenital myopathy with severe contractures, delayed motor milestones, both proximal and distal muscle weakness, normal serum creatine kinase (CK), a non-progressive course, with muscle biopsy findings of central cores and in addition, marked proliferation of connective and adipose tissue, and variation in fibre size. The mother and the younger sister of the proband had similar but mild symptoms with the proband. Molecular genetic analysis showed a heterozygous sequence change in exon 102 (c.14692G > A; p.Gly4897Asp) in RYR1 gene not previously reported. The uncommon clinical distribution of weakness and the severe morphological abnormalities on muscle histology, which had some features of a muscular dystrophy had never been reported in an autosomal dominant CCD family.