title: A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease.
abstract: We identified a novel stop codon mutation in the myophosphorylase gene in a Greek patient with typical symptoms of McArdle's disease. This is the first genetic study of myophosphorylase deficiency in a Greek family, showing that the proband was a compound heterozygous for the common "caucasian" mutation (R49X) and a new nonsense mutation (Y52X), both within exon 1. The new point mutation, a C-to-G transversion at codon 52, converts an encoded tyrosine to a stop codon. Our study confirms that the R49X is also present in the Greek population. The Y52X may represent a private mutation or a common mutation among Greeks. Our data further expand the already remarkable genetic heterogeneity of McArdle's disease. The prevalence of the Y52X mutation in Greek patients with McArdle's disease remains to be determined.
authors.affiliation: Department of Neurology, University of Thessaly, Larissa, Greece.
authors.forename: Georgios M
authors.initials: GM
authors.lastname: Hadjigeorgiou
authors.forename: Alexandros
authors.initials: A
authors.lastname: Papadimitriou
authors.forename: Olimpia
authors.initials: O
authors.lastname: Musumeci
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Paterakis
authors.forename: Konstantina
authors.initials: K
authors.lastname: Flabouriari
authors.forename: Sara
authors.initials: S
authors.lastname: Shanske
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005080:Exercise Test; D017079:Exercise Tolerance / Q000235:genetics; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000235:genetics*; D006115:Greece; D006579:Heterozygote; D006801:Humans; D008297:Male; D009120:Muscle Cramp / Q000209:etiology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; D024982:Glycogen Phosphorylase, Muscle Form