Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

Neurology. 2015 Apr 7;84(14):1495-7. doi: 10.1212/WNL.0000000000001440. Epub 2015 Mar 13.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Humans
  • Male
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology*
  • Nucleotidyltransferases / genetics*
  • Phenotype
  • Siblings*
  • Young Adult

Substances

  • Nucleotidyltransferases
  • mannose 1-phosphate guanylyltransferase