Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease

Brain

Volumn 132, Issue 6, 2009, Pages 1545-1552

  Vissing, John ^a   Duno, Morten ^a   Schwartz, Marianne ^a   Haller, Ronald G ^b,c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b PRESBYTERIAN HOSPITAL OF DALLAS   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Exercise capacity; Forearm exercise test; Glycogenosis V; McArdle phenotype; Myophosphorylase deficiency

Indexed keywords

AMMONIA; GLYCOGEN PHOSPHORYLASE; LACTIC ACID;

ADULT; AEROBIC METABOLISM; ARM EXERCISE; ARTICLE; BICYCLE ERGOMETRY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; EXERCISE TEST; FEMALE; GENE; GENE FREQUENCY; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 5; GLYCOGENOLYSIS; GRIP STRENGTH; HEART OUTPUT; HUMAN; INTRON; ISOMETRIC EXERCISE; LACTATE BLOOD LEVEL; MALE; MOLECULAR GENETICS; MUSCLE METABOLISM; OXYGEN CONSUMPTION; PHENOTYPE; PRIORITY JOURNAL; PYGM GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICING DEFECT; WORKLOAD; BLOOD; CLINICAL TRIAL; ENZYMOLOGY; FOREARM; GENETICS; METABOLISM; METHODOLOGY; MULTICENTER STUDY; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY; RNA SPLICING; SKELETAL MUSCLE;

ADULT; CARDIAC OUTPUT; EXERCISE TEST; FEMALE; FOREARM; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; LACTIC ACID; MALE; MUSCLE, SKELETAL; MUTATION; OXYGEN CONSUMPTION; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES;

EID: 67649394565     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awp065     Document Type: Article

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