Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome

J Med Genet. 2004 May;41(5):e61. doi: 10.1136/jmg.2003.013870.
No abstract available

Publication types

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

MeSH terms

  • Brain / abnormalities*
  • Brain / pathology
  • Child
  • Eye Abnormalities / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Mutation, Missense*
  • Pentosyltransferases
  • Proteins / genetics*
  • Syndrome

Substances

  • Proteins
  • FKRP protein, human
  • Pentosyltransferases

Associated data

  • OMIM/236670
  • OMIM/253800
  • OMIM/606612