title: Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.
abstract: Heritable phosphorylase kinase (Phk) deficiency underlies a group of glycogenoses in humans, mice and rats that differ in mode of inheritance and tissue-specificity. It is assumed that this heterogeneity is caused by mutations affecting different subunits and isoforms of Phk. As the first Phk deficiency mutation to be identified, we report a single-nucleotide insertion in the coding sequence of the Phk alpha subunit muscle isoform of the I-strain mouse. This mutation accounts for the virtually complete enzymatic deficiency, the tissue specificity and the X-linked mode of inheritance in this mutant.
authors.affiliation: Institut für Physiologische Chemie, Medizinische Fakulät, Ruhr-Universität, Bochum, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Schneider
authors.forename: J J
authors.initials: JJ
authors.lastname: Davidson
authors.forename: A
authors.initials: A
authors.lastname: Wüllrich
authors.forename: M W
authors.initials: MW
authors.lastname: Kilimann
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D016368:Frameshift Mutation / Q000235:genetics*; D051379:Mice; D008807:Mice, Inbred BALB C; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D010764:Phosphorylase Kinase / Q000172:deficiency* / Q000235:genetics; D012729:Sex Chromosome Aberrations; D014960:X Chromosome
chemical_list: D010764:Phosphorylase Kinase