title: [Glycogenesis due to adult phosphorylase kinase deficiency].
abstract: A 42-year-old man presented exercise-induced muscle pain without myogloburia since the age of 12 years. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and inter-myofibrillar accumulation of glycogen. Exercise on a bicycle ergometer produced a normal raise of lactate. Biochemical study showed a partial defect in phosphorylase activity.
authors.affiliation: Service de Neurologie, CHU Limoges. couratie@unilim.fr
authors.forename: P
authors.initials: P
authors.lastname: Couratier
authors.forename: L
authors.initials: L
authors.lastname: Magy
authors.forename: C
authors.initials: C
authors.lastname: Baussan
authors.forename: M-T
authors.initials: MT
authors.lastname: Antonini
authors.forename: J-F
authors.initials: JF
authors.lastname: Martaille
authors.forename: F
authors.initials: F
authors.lastname: Tabaraud
authors.forename: J-M
authors.initials: JM
authors.lastname: Vallat
mesh_terms: D000328:Adult; D001706:Biopsy; D006003:Glycogen / Q000378:metabolism*; D006801:Humans; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism*; D010764:Phosphorylase Kinase / Q000172:deficiency*
chemical_list: D006003:Glycogen; D010764:Phosphorylase Kinase