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NEUROLOGY 1993;43:387
© 1993 American Academy of Neurology

Phosphoglycerate kinase deficiency

Biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)

P. Tonin, MD, S. Shanske, PhD, A. F. Miranda, PhD, A. K. Brownell, MD, J. P. Wyse, MD, S. Tsujino, MD and S. DiMauro, MD

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology (Drs. Tonin, Shanske, Tsujino, and DiMauro) and Pathology (Dr. Miranda), Columbia-Presbyterian Medical Center, New York, NY, and the University of Calgary (Drs. Brownell and Wyse), Alberta, Canada.

Biochemical analysis of muscle in a 37-year-old man with exercise intolerance, myalgia, recurrent myoglobinuria, and retinitis pigmentosa showed phosphoglycerate kinase (PGK) deficiency. Kinetic and physical characteristics of the mutant enzyme differed from those of two previously reported cases, suggesting a distinct mutation. Southern blot analysis showed similar bands in patient and control, but Northern blot analysis of muscle mRNA showed an abnormally large message. These data demonstrate that PGK deficiency is clinically, biochemically, and genetically heterogeneous.

Address correspondence and reprint requests to Dr. S. DiMauro, 4–420 College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032.

Supported in part by the National Institutes of Health, grant NS 11766, and the Muscular Dystrophy Association. Dr. Tsujino was supported by a postdoctoral fellowship from the Muscular Dystrophy Association.

Received April 10, 1992. Accepted for publication in final form June 30, 1992.




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