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

H. Hattori, E. Nagata, Y. Oya, T. Takahashi, M. Aoki, Daisuke Ito, N. Suzuki

Research output: Contribution to journalArticle

10 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1288-1291
Number of pages4
JournalEuropean Journal of Neurology
Volume14
Issue number11
DOIs
Publication statusPublished - 2007 Nov

Fingerprint

Dantrolene
Creatine Kinase
Mutation
Exons
Distal Myopathies
Serum
Pharmaceutical Preparations
Genes
Miyoshi myopathy

Keywords

  • Creatine kinase
  • Dantrolene
  • Dysferlin
  • Miyoshi myopathy
  • Muscular dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. / Hattori, H.; Nagata, E.; Oya, Y.; Takahashi, T.; Aoki, M.; Ito, Daisuke; Suzuki, N.

In: European Journal of Neurology, Vol. 14, No. 11, 11.2007, p. 1288-1291.

Research output: Contribution to journalArticle

Hattori, H. ; Nagata, E. ; Oya, Y. ; Takahashi, T. ; Aoki, M. ; Ito, Daisuke ; Suzuki, N. / A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. In: European Journal of Neurology. 2007 ; Vol. 14, No. 11. pp. 1288-1291.
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AU - Ito, Daisuke

AU - Suzuki, N.

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