Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

Neurology. 2000 Dec 26;55(12):1931-3. doi: 10.1212/wnl.55.12.1931.


Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM) are autosomal recessive disorders caused by mutations in the dysferlin gene on chromosome 2p13. The authors studied a large Russian family with both LGMD2B and MM. All affected individuals, as well as one preclinical boy with dystrophic changes on muscle biopsy, were found to be homozygous for a novel dysferlin mutation, TG573/574AT (Val67Asp). This finding supports the view that additional factors (e.g., modifier genes) contribute to the phenotypic expression of causative mutations in dysferlinopathies.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Dysferlin
  • Female
  • Humans
  • Male
  • Membrane Proteins*
  • Muscle Proteins / genetics*
  • Muscles / pathology*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Mutation / genetics
  • Pedigree
  • Phenotype


  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Muscle Proteins