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

Antonio Toscano, Seiichi Tsujino, Giuseppe Vita, Sara Shanske, Corrado Messina, Salvatore Dimauro

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1134-1137
Number of pages4
JournalMuscle and Nerve
Issue number9
Publication statusPublished - Sep 1996


  • genetics
  • myopathy
  • PGAM-M deficiency

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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