Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Hum Genet. 2009 Apr;125(3):342.
No abstract available

MeSH terms

  • Glycogen Phosphorylase, Muscle Form / deficiency*
  • Glycogen Phosphorylase, Muscle Form / genetics*
  • Glycogen Storage Disease Type V / enzymology*
  • Glycogen Storage Disease Type V / genetics*
  • Humans
  • Introns
  • Molecular Sequence Data
  • Point Mutation*
  • RNA Splicing / genetics
  • Sequence Deletion*

Substances

  • Glycogen Phosphorylase, Muscle Form

Associated data

  • GENBANK/HG080008
  • GENBANK/HS080014