title: A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
abstract: In a 28-year-old man with myopathy and phosphorylase kinase (PhK) deficiency, we found a G-to-C substitution at the 5' end of an intron in the muscle-specific alpha-subunit gene. The mutation destroys the high-consensus GT sequences at the 5' splice junction of the intron, which causes skipping of the preceding exon. This is the second molecular genetic defect identified in the myopathic variant of PhK deficiency.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia College of Physicians and Surgeons, New York, New York 10032, USA.
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: G
authors.initials: G
authors.lastname: Manfredi
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: S
authors.initials: S
authors.lastname: Krishna
authors.forename: W K
authors.initials: WK
authors.lastname: Ilse
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D017079:Exercise Tolerance; D006801:Humans; D007438:Introns; D008297:Male; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D009212:Myoglobinuria / Q000201:enzymology / Q000235:genetics; D010764:Phosphorylase Kinase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011487:Protein Conformation; D012326:RNA Splicing / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004247:DNA; D010764:Phosphorylase Kinase