Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred
✍ Scribed by Antonio Toscano; Seiichi Tsujino; Giuseppe Vita; Sara Shanske; Corrado Messina; Salvatore DiMauro
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 367 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
✦ Synopsis
Human muscle phosphoglycerate mutase (PGAM-M) deficiency is associated with exercise intolerance, muscle cramps, chronic serum CK elevation, and recurrent episodes of myoglobinuria. Ten patients have been described: 7 African Americans, 1 African, and 2 Caucasians from the Italian kindred described here. Molecular genetic analysis has revealed three different mutations in the PGAM-M gene. The propositus of the Italian family was homozygous for a unique point mutation at codon 90 in exon 1, a C-to-T transition converting an encoded arginine to tryptophan. His sister, who had similar complaints, was also homozygous for this mutation while the paternal grandfather, both parents, a brother and a nephew of the propositus were heterozygous for the mutation. Our studies exclude that PGAM-M deficiency is limited to African Americans, and suggest that the molecular heterogeneity of this rare disorder may be due to a "founder effect" in different ethnic groups.