Molecular genetic studies in muscle phosphoglycerate mutase ( PGAM-M) deficiency.
Phosphoglycerate mutase (PGAM; EC 2.7.5.3) catalyzes the interconversion of 2-phosphoglycerate and 3-phosphoglycerate in the glycolytic pathway. Hereditary muscle PGAM deficiency has been identified in 9 patients with myopathy. All patients had exercise intolerance and 6 had myoglobinuria. Seven of the 9 patients were African-Americans: 5 of them were homozygous for a nonsense mutation, TGG(Trp) to TAG at codon 78; 1 was a compound heterozygote for the nonsense mutation and a missense mutation, GAG(Glu) to GCG(Ala) at codon 89; and 1 could not be tested. The only 2 Caucasian patients, a brother and sister, were homozygous for a different missense mutation, CGG(Arg) to TGG(Trp) at codon 90. Despite the small number of patients identified, these findings indicate that there is a common mutation in African-Americans while there may be molecular genetic heterogeneity in other ethnic groups.[1]References
- Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. Tsujino, S., Shanske, S., Sakoda, S., Toscano, A., DiMauro, S. Muscle Nerve (1995) [Pubmed]
Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenesOpen Access LicencePrivacy PolicyTerms of Useapsburg
