Proximal dystrophin gene deletions and protein alterations in becker muscular dystrophy

Ann N Y Acad Sci. 2005 Jun:1048:406-10. doi: 10.1196/annals.1342.050.

Abstract

Alterations in production of cytoskeletal protein dystrophin caused by in-frame gene mutations lead to the Becker muscular dystrophy. In this study we analyzed genotype-phenotype correlation in a group of Becker muscular dystrophy patients with deletions affecting the proximal part of dystrophin gene, encompassing exons 3-13. Four patients with deletions affecting N terminal dystrophin domain had early onset and faster progression of the disease, while three patients with deletions in the proximal part of dystrophin's rod domain had a more benign disease course. Our study suggests that proximal gene deletions in Becker muscular dystrophy have various phenotypic effects depending on the affected domain of protein dystrophin.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Dystrophin / chemistry
  • Dystrophin / genetics*
  • Exons / genetics
  • Gene Deletion*
  • Genotype
  • Humans
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / physiopathology
  • Mutation
  • Phenotype

Substances

  • Dystrophin