LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype

Neurology. 2005 May 10;64(9):1635-7. doi: 10.1212/01.WNL.0000157654.59374.E5.

Abstract

LGMD type 2I, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Codon, Terminator / genetics
  • Creatine Kinase / blood
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Exons / genetics
  • Frameshift Mutation / genetics
  • Genetic Carrier Screening
  • Genetic Counseling / standards
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Heterozygote
  • Humans
  • Male
  • Muscular Atrophy / genetics
  • Muscular Atrophy / metabolism
  • Muscular Atrophy / physiopathology
  • Muscular Dystrophies, Limb-Girdle / diagnosis
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Muscular Dystrophy, Duchenne / diagnosis
  • Muscular Dystrophy, Duchenne / genetics*
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Pentosyltransferases
  • Phenotype
  • Proteins / genetics*

Substances

  • Codon, Terminator
  • Proteins
  • FKRP protein, human
  • Pentosyltransferases
  • Creatine Kinase