Abstract
The authors report a 36-year-old man with exertional myoglobinuria and muscle cramp without hemolytic anemia or CNS symptoms. They found a deficiency of phosphoglycerate kinase (PGK) activity in muscle and erythrocytes and a 4-base pair deletion in exon 6 of the PGK gene. This mutation may cause a frameshift, yielding an abnormal stop codon in exon 6 by which a truncated PGK protein was produced. This phenotype is caused by a novel mutation of the PGK gene.
Original language | English |
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Pages (from-to) | 1188-1190 |
Number of pages | 3 |
Journal | Neurology |
Volume | 54 |
Issue number | 5 |
DOIs | |
Publication status | Published - 14-03-2000 |
All Science Journal Classification (ASJC) codes
- Clinical Neurology