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

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

研究成果: Article

10 引用 (Scopus)

抜粋

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.

元の言語English
ページ(範囲)1288-1291
ページ数4
ジャーナルEuropean Journal of Neurology
14
発行部数11
DOI
出版物ステータスPublished - 2007 11 1

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

フィンガープリント A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene' の研究トピックを掘り下げます。これらはともに一意のフィンガープリントを構成します。

  • これを引用