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

Hum Genet. 2009 Apr;125(3):335.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Codon / genetics
  • Exons
  • Glycogen Phosphorylase, Muscle Form / deficiency*
  • Glycogen Phosphorylase, Muscle Form / genetics*
  • Glycogen Storage Disease Type V / enzymology*
  • Glycogen Storage Disease Type V / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense*

Substances

  • Codon
  • Glycogen Phosphorylase, Muscle Form

Associated data

  • GENBANK/HM080064