[A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy]

Rev Neurol. 2013 Jun 1;56(11):590-1.
[Article in Spanish]

Abstract

Title: Nueva mutacion en el gen del alfa-sarcoglicano en una familia espanola con distrofia muscular.

Publication types

  • English Abstract
  • Letter

MeSH terms

  • Adult
  • Female
  • Hearing Loss, Sensorineural / genetics
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Point Mutation*
  • Sarcoglycanopathies / diagnosis
  • Sarcoglycanopathies / genetics*
  • Sarcoglycans / genetics*
  • Spain

Substances

  • Sarcoglycans