Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Viéitez
Irene
I
University Hospital of Vigo, Spain. irenevigo@gmail.com
Teijeira
Susana
S
Millán
Beatriz San
BS
Navarro
Carmen
C
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D024982:Glycogen Phosphorylase, Muscle Form / Q000172:deficiency* / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense
D003062:Codon; D024982:Glycogen Phosphorylase, Muscle Form