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Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

โœ Scribed by Dr. Seiichi Tsujino; Dr. Sara Shanske; Dr. Saburo Sakoda; Dr. Antonio Toscano; Dr. Salvatore DiMauro


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
357 KB
Volume
18
Category
Article
ISSN
0148-639X

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Molecular basis of muscle phosphoglycera
โœ Antonio Toscano; Seiichi Tsujino; Giuseppe Vita; Sara Shanske; Corrado Messina; ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 367 KB ๐Ÿ‘ 2 views

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