Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms

European Journal of Neurology

Volumn 7, Issue 1, 2000, Pages 111-113

  Aasly, J ^a   Van Diggelen, O P ^b   Boer, A M ^b   Bronstad G ^a  

^a TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Glycogenosis; McArdle's disease; Phosphoglycerate kinase deficiency

Indexed keywords

LACTIC ACID; PHOSPHOGLYCERATE KINASE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; ENZYME DEFECT; EXERCISE; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; HUMAN TISSUE; MALE; MUSCLE CRAMP; MUSCLE STIFFNESS; MYALGIA; MYOGLOBINURIA; PRIORITY JOURNAL; RHABDOMYOLYSIS; SIBLING;

ADOLESCENT; ADULT; DIAGNOSIS, DIFFERENTIAL; EXERCISE TOLERANCE; GLYCOGEN STORAGE DISEASE TYPE V; GLYCOGEN STORAGE DISEASE TYPE VII; HUMANS; MALE; METABOLISM, INBORN ERRORS; MUSCLE, SKELETAL; MYOGLOBINURIA; NUCLEAR FAMILY; PHOSPHOGLYCERATE KINASE;

EID: 0034457289     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1468-1331.2000.00012.x     Document Type: Article

References (7)

1. Phosphoglycerate kinase deficiency: A new cause of recurrent myoglobinuria
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3. Hereditary deficiency of phosphoglycerate kinase: A new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia
4. A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking haemolytic anaemia
5. Phosphoglycerate kinase deficiency
6. Glycolytic defects in muscle: Aspects of collaboration between basic science and clinical medicine
7. Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency