title: Molecular characterization of McArdle's disease in two large Finnish families.
abstract: We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop codon (E540X). The second family carried a splice-junction mutation at the 5' splice site of intron 14 (1844+G-->A), previously reported in one Caucasian patient and in a consanguineous Druze family. These data further enlarge the list of mutations associated with McArdle's disease and establish that McArdle's disease is genetically heterogeneous also within the Finnish population.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: M
authors.initials: M
authors.lastname: Löfberg
authors.forename: L
authors.initials: L
authors.lastname: Tamburino
authors.forename: H
authors.initials: H
authors.lastname: Jänkälä
authors.forename: G M
authors.initials: GM
authors.lastname: Hadjigeorgiou
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: H
authors.initials: H
authors.lastname: Somer
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D004247:DNA / Q000235:genetics; D005260:Female; D005387:Finland; D006012:Glycogen Storage Disease Type V / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D006005:Phosphorylases / Q000172:deficiency / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D020040:Trans-Splicing
chemical_list: D018389:Codon, Nonsense; D004247:DNA; D006005:Phosphorylases