title: Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
abstract: Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both father and daughter were affected, an example of pseudo-dominant transmission. The daughter was a compound heterozygote for a new nonsense mutation (R207X) and a new missense mutation (R602Q) while her father was homozygous for the R207X mutation. The mother carried only the R602Q mutation and was an asymptomatic heterozygote. In the second family, the only affected member was homozygous for the R207X mutation. This first molecular genetic study of McArdle's disease in Yemenite-Jewish patients expands the already remarkable genetic heterogeneity of McArdle's disease and suggests the existence of ethnic or private mutations within this group.
authors.affiliation: Department of Neurology, University of Thessaly, Larissa, Greece.
authors.forename: Georgios M
authors.initials: GM
authors.lastname: Hadjigeorgiou
authors.forename: Menachem
authors.initials: M
authors.lastname: Sadeh
authors.forename: Olimpia
authors.initials: O
authors.lastname: Musumeci
authors.forename: Ron
authors.initials: R
authors.lastname: Dabby
authors.forename: Laura
authors.initials: L
authors.lastname: De Girolami
authors.forename: Ali
authors.initials: A
authors.lastname: Naini
authors.forename: Alexandros
authors.initials: A
authors.lastname: Papadimitriou
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; D020022:Genetic Predisposition to Disease; D024982:Glycogen Phosphorylase, Muscle Form / Q000172:deficiency / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000201:enzymology / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D008875:Middle Aged; D008967:Molecular Biology; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D015006:Yemen
chemical_list: D018389:Codon, Nonsense; D024982:Glycogen Phosphorylase, Muscle Form