Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy

K. Kawabe, K. Goto, I. Nishino, C. Angelini, Yukiko K. Hayashi

Research output: Contribution to journalArticle

Abstract

Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known by the term 'dysferlinopathy'. We performed mutation analyses of DYSF in 14 Italian patients from 10 unrelated families with a deficiency of dysferlin protein below 20% of the value in normal controls by immunoblotting analysis. We identified 11 different mutations, including eight missense and three deletion mutations. Nine of them were novel mutations. We also identified a unique 6-bp insertion polymorphism within the coding region of DYSF in 15% of Italian population, which was not observed in East Asian populations. The correlation between clinical phenotype and the gene mutations was unclear, which suggested the role of additional genetic and epigenetic factors in modifying clinical symptoms.

Original languageEnglish
Pages (from-to)657-661
Number of pages5
JournalEuropean Journal of Neurology
Volume11
Issue number10
DOIs
Publication statusPublished - Oct 2004

Keywords

  • Dysferlin
  • Limb-girdle muscular dystrophy (LGMD)
  • Miyoshi myopathy (MM)
  • Mutation
  • Polymorphism

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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