17
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

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

      Neurology
      Adult, Child, Female, Humans, Male, Membrane Proteins, Muscle Proteins, genetics, Muscles, pathology, Muscular Dystrophies, Mutation, Pedigree, Phenotype

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          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.

          Related collections

          Author and article information

          Journal
          11134403
          10.1212/wnl.55.12.1931

          Chemistry
          Adult,Child,Female,Humans,Male,Membrane Proteins,Muscle Proteins,genetics,Muscles,pathology,Muscular Dystrophies,Mutation,Pedigree,Phenotype

          Comments

          Comment on this article