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