Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Viéitez
Irene
I
Neuropathology, University Hospital of Vigo, Meixoeiro, s/n, 36215, Vigo, Spain. irenevigo@gmail.com
Teijeira
Susana
S
Miranda
Sara
S
San Millán
Beatriz
B
Navarro
Carmen
C
D003062:Codon / Q000235:genetics; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense
D003062:Codon; D024982:Glycogen Phosphorylase, Muscle Form