Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy

Neurology. 2009 Nov 10;73(19):1599-601. doi: 10.1212/WNL.0b013e3181c0d47a.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Cerebellar Diseases / complications
  • Cerebellar Diseases / diagnosis*
  • Cerebellar Diseases / metabolism
  • Child
  • Dystroglycans* / metabolism
  • Epilepsy / complications
  • Epilepsy / diagnosis*
  • Epilepsy / metabolism
  • Female
  • Humans
  • Infant
  • Male
  • Muscular Dystrophies, Limb-Girdle / complications
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Muscular Dystrophies, Limb-Girdle / metabolism
  • Phenotype

Substances

  • Dystroglycans