title: Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.
abstract: Phosphorylase kinase (PhK) deficiency is the underlying cause of variable clinical symptoms depending on the tissues involved. Until today, only a few cases of myopathy associated with muscle PhK deficiency caused by a mutation in the gene encoding the alpha subunit of phosphorylase kinase (PHKA1) have been reported. We describe a male patient with myopathy and absent muscle PhK activity caused by a frameshift mutation in the gene encoding the alpha subunit of PhK on chromosome Xq12-q13.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. wim.wuyts@ua.ac.be
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Chantal
authors.initials: C
authors.lastname: Ceuterick
authors.forename: Katrien
authors.initials: K
authors.lastname: Storm
authors.forename: Thierry
authors.initials: T
authors.lastname: de Barsy
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Martin
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010764:Phosphorylase Kinase / Q000172:deficiency / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics
chemical_list: D021122:Protein Subunits; D004247:DNA; D010764:Phosphorylase Kinase