The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
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Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
Am J Hum Genet. 1993 Mar;52(3):472-7.
- PubMed ID
- 8447317 [ View in PubMed]
- Abstract
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 molecular lesions in five patients--four African-Americans and one Caucasian. Three patients were homozygous for an identical G-to-A transition converting an encoded Trp to an in-frame stop codon (codon 78). A fourth patient was heterozygous for this mutation and also carried an A-to-C mutation converting Glu to Ala (codon 89). The fifth patient, the only Caucasian, was homozygous for a different point mutation, a C-to-T mutation, converting Arg to Trp (codon 90).