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- W2009660888 abstract "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 condon 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. © 1996 John Wiley & Sons, Inc Muscle & Nerve 19:1134–1137, 1996" @default.
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- W2009660888 date "1996-09-01" @default.
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- W2009660888 title "Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred" @default.
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- W2009660888 doi "https://doi.org/10.1002/(sici)1097-4598(199609)19:9<1134::aid-mus8>3.0.co;2-0" @default.
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