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A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene
European Journal of Neurology, 10/31/07

Hattori, H., et al. - Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine kinase (CK) before and after administration of dantrolene in the elder brother and the increased serum CK before and after discontinuance of the drug on suspicion of drug-induced hepatopathy in the younger sister

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