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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Molecular basis of muscle phosphoglycerate mutase ( PGAM-M) deficiency in the Italian kindred.

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.[1]


  1. Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred. Toscano, A., Tsujino, S., Vita, G., Shanske, S., Messina, C., Dimauro, S. Muscle Nerve (1996) [Pubmed]
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