FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

J Med Genet. 2004 Apr;41(4):e50. doi: 10.1136/jmg.2003.013953.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Child
  • Female
  • Gene Frequency
  • Germany
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Mutation, Missense
  • Pentosyltransferases
  • Point Mutation*
  • Polymorphism, Genetic
  • Proteins / genetics*
  • Sequence Alignment

Substances

  • Proteins
  • FKRP protein, human
  • Pentosyltransferases