Do carriers of PYGM mutations have symptoms of McArdle disease?

Neurology

Volumn 67, Issue 4, 2006, Pages 716-718

  Andersen, Susanne Tvede ^a   Dunø, Morten ^b   Schwartz, Marianne ^b   Vissing, John ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE; LACTIC ACID;

ABNORMALLY LOW SUBSTRATE CONCENTRATION IN BLOOD; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME METABOLISM; EXERCISE TOLERANCE; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HEART RATE; HETEROZYGOTE; HUMAN; LACTATE BLOOD LEVEL; MALE; MUSCLE CRAMP; MYOGLOBINURIA; OXIDATION; PATHOGENESIS; PRIORITY JOURNAL; SYMPTOM;

ADULT; GENETIC PREDISPOSITION TO DISEASE; GLYCOGEN STORAGE DISEASE TYPE V; HETEROZYGOTE; HUMANS; MIDDLE AGED; PROGNOSIS; RISK ASSESSMENT; RISK FACTORS;

EID: 33747655041     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000230154.79933.d7     Document Type: Article

References (10)

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