Gene symbol: PYGM. Disease: McArdle disease

Hum Genet. 2008 Oct;124(3):307.
No abstract available

MeSH terms

  • Amino Acid Substitution*
  • Codon / genetics*
  • Codon, Nonsense*
  • Codon, Terminator
  • Exons
  • Glycogen Phosphorylase, Muscle Form / genetics*
  • Glycogen Storage Disease Type V / genetics*
  • Humans
  • Point Mutation

Substances

  • Codon
  • Codon, Nonsense
  • Codon, Terminator
  • Glycogen Phosphorylase, Muscle Form