title: Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
abstract: We report two new mutations in the myophosphorylase gene (PYGM) in two unrelated Italian patients with myophosphorylase deficiency (McArdle's disease). In one, we identified a missense C-to-T mutation at codon 269 in exon 7, changing CGA (arginine) to TGA (stop codon) (R269X). The second patient carried a G-to-C mutation, changing GCT (alanine) to CCT (proline) at codon 686 (A686P) in exon 17. Both were compound heterozygous, with the common mutation at codon 49 (R49X) on the other allele. Our data further expand the genetic heterogeneity in patients with McArdle's disease, suggesting that the possibility of novel mutations has to be taken into account when performing genetic analysis in distinct ethnic groups.
authors.affiliation: Neuromuscular Diseases Unit, Department of Pediatrics, Giannina Gaslini Institute, University of Genova, Genova, Italy. claudiobruno@ospedale-gaslini.ge.it
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Roberta
authors.initials: R
authors.lastname: Lanzillo
authors.forename: Claudia
authors.initials: C
authors.lastname: Biedi
authors.forename: Lucia
authors.initials: L
authors.lastname: Iadicicco
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics; D005260:Female; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D024982:Glycogen Phosphorylase, Muscle Form