[Clinical-genetic analysis of limb-girdle muscular dystrophy 2 type I]

Zh Nevrol Psikhiatr Im S S Korsakova. 2012;112(6):55-9.
[Article in Russian]

Abstract

Seventy four patients with clinical presentation of LGMD and probably autosomal-recessive type of inheritance were examined. Five different mutations of FKRP gene responsible for LGMD2 type I were detected in eight (10.8%) patients. Two of them с.341C>G, c.826C>A were described before and three c.229C>T, с.265C>T, с.1078G>C were found for the first time. The significant clinical polymorphism due to the difference in age of manifestation and severity of clinical presentation was identified.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • Female
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Mutation
  • Pentosyltransferases
  • Polymorphism, Genetic
  • Proteins / genetics*
  • Young Adult

Substances

  • Proteins
  • FKRP protein, human
  • Pentosyltransferases

Supplementary concepts

  • Limb-girdle muscular dystrophy type 2A