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Article

The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.

American journal of human genetics - 1 Mar 1993

Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S

Abstract excerpt

The glycolytic enzyme phosphoglycerate mutase (PGAM) is a dimer, and mature human skeletal muscle contains almost exclusively the MM form of the enzyme, PGAM-M. In 1981, we identified a patient with PGAM-M deficiency, and three additional patients have since been described. All presented with exercise intolerance, cramps, and myoglobinuria. We report two new patients with PGAM-M deficiency and describe the...

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PMID: 8447317
PMCID: PMC1682163

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