Hong Kong Med J 2011;17:67-70 | Number 1, February 2011
RYR1-related central core myopathy in a Chinese adolescent boy
Bosco Chan, Sammy PL Chen, WC Wong, Chloe M Mak, S Wong, KY Chan, Albert YW Chan
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Kowloon, Hong Kong
Central core myopathy is a rare, inherited neuromuscular disorder with a wide spectrum of phenotypic presentations. It is also considered an allelic disease of malignant hyperthermia. We report a case of central core myopathy in a Chinese adolescent boy presenting with atypical clinical features and a moderately elevated serum creatine kinase level. The diagnosis was made from the histopathological findings of central cores on muscle biopsy, and confirmed by the molecular genetic testing for the RYR1 gene mutation. This is the first case of central core myopathy confirmed by molecular study in our locality.
Key words: Malignant hyperthermia; Mutation, missense; Myopathy, central core; Myopathies, structural, congenital; Ryanodine receptor calcium release channel
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