title: Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.
abstract: We report on a Spanish family with myophosphorylase (EC 2.4.1.1) deficiency (McArdle's disease). The proband and his symptomatic sister were compound heterozygous for two novel mutations: a T-to-G transversion in exon 14 (c1722 T>G) that changes a tyrosine to a stop codon (Y573X), and a G-to-A transition in exon 15 (c1827 G>A) that disrupts the consensus signal at the donor splicing site. These findings further expand knowledge of the genetic bases of muscle glycogen phosphorylase deficiency.
authors.affiliation: Centre d'Investigacions en Bioquimica i Biologia Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Gámez
authors.forename: Juan C
authors.initials: JC
authors.lastname: Rubio
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martín
authors.forename: Israel
authors.initials: I
authors.lastname: Fernández-Cadenas
authors.forename: Elena
authors.initials: E
authors.lastname: Garcia-Arumi
authors.forename: Antoni L
authors.initials: AL
authors.lastname: Andreu
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
mesh_terms: D000328:Adult; D000368:Aged; D017398:Alternative Splicing / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006003:Glycogen / Q000378:metabolism; D024982:Glycogen Phosphorylase, Muscle Form / Q000172:deficiency* / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; D022821:RNA Splice Sites; D006003:Glycogen; D024982:Glycogen Phosphorylase, Muscle Form