Muscle phosphorylase b kinase deficiency revisited

Neuromuscular Disorders

Volumn 20, Issue 2, 2010, Pages 125-127

  Echaniz Laguna, Andoni ^a   Akman, Hasan O ^b   Mohr, Michel ^a   Tranchant, Christine ^a   Talmant Verbist, Violaine ^a   Rolland, Marie Odile ^c   Dimauro, Salvatore ^b  

^a HÔPITAL CIVIL   (France)

^b New York Presbyterian Morgan Stanley Children's Hospital   (United States)

^c HOSPICES CIVILS DE LYON   (France)

Author keywords

Mental retardation; Muscle glycogenosis; Myopathy; Phosphorylase b kinase

Indexed keywords

CREATINE KINASE; PHOSPHORYLASE KINASE;

ADULT; ARTICLE; BRAIN FUNCTION; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CLINICAL FEATURE; COGNITIVE DEFECT; CREATINE KINASE BLOOD LEVEL; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROMYOGRAM; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 8; HUMAN; HUMAN TISSUE; INDUSTRIAL WORKER; LANGUAGE DEVELOPMENT; MALE; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MUSCLE STIFFNESS; MYALGIA; MYOGLOBINURIA; MYOPATHY; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; STOP CODON;

ADULT; AMINO ACID SEQUENCE; BIOPSY; BRAIN; CODON, NONSENSE; COGNITION DISORDERS; CREATINE KINASE; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; EXERCISE TOLERANCE; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; INTELLIGENCE; MALE; MENTAL RETARDATION; MUSCLE WEAKNESS; MUSCLE, SKELETAL; PHOSPHORYLASE KINASE; PROTEIN SUBUNITS;

EID: 75149113953     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.11.004     Document Type: Article

References (8)

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