Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

Neurology. 2013 Mar 5;80(10):963-5. doi: 10.1212/WNL.0b013e3182840cbc. Epub 2013 Feb 6.
No abstract available

Publication types

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

MeSH terms

  • Dystroglycans / deficiency*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Muscular Dystrophies, Limb-Girdle / metabolism*
  • Muscular Dystrophies, Limb-Girdle / physiopathology
  • Nucleotidyltransferases / genetics*
  • Pedigree

Substances

  • Dystroglycans
  • Nucleotidyltransferases
  • CRPPA protein, human