A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

Authors: Hattori, H.¹; Nagata, E.¹; Oya, Y.²; Takahashi, T.³; Aoki, M.³; Ito, D.¹; Suzuki, N.¹

Source: European Journal of Neurology, Volume 14, Number 11, November 2007 , pp. 1288-1291(4)

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Abstract:

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. We report a novel pair of heterozygous mutations in the 3′-splicing site of exon 26 and the translation site of exon 28 of the dysferlin gene in two siblings, and effective treatment of their MM with dantrolene.

Keywords: creatine kinase; dantrolene; dysferlin; Miyoshi myopathy; muscular dystrophy

Document Type: Short communication

DOI: http://dx.doi.org/10.1111/j.1468-1331.2007.01958.x

Affiliations: 1: Department of Neurology, Keio University School of Medicine, Tokyo, Japan 2: Department of Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan; 3: Department of Neurology, Tohoku University School of Medicine, Sendai, Japan

Publication date: 2007-11-01