Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy

Eur J Pediatr. 2006 Jan;165(1):62-3. doi: 10.1007/s00431-005-1752-6. Epub 2005 Sep 6.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Genetic Linkage
  • Humans
  • Infant
  • Male
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Mutation, Missense*
  • Myositis / virology
  • Pentosyltransferases
  • Phenotype
  • Proteins / genetics

Substances

  • Proteins
  • FKRP protein, human
  • Pentosyltransferases