Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.

doi:10.1002/mus.880181411

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Article

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.

Muscle & nerve. Supplement - 1 Jan 1995

Tsujino S, Shanske S, DiMauro S

Abstract excerpt

Phosphoglycerate kinase (PGK; EC 2.7.2.3) is a glycolytic enzyme encoded by a single gene on the X chromosome and ubiquitously expressed. Hereditary PGK deficiency can cause hemolytic anemia, central nervous system dysfunction, and/or myopathy characterized by exercise intolerance, cramps, and my...

Topics

Base Sequence
Glycogen Storage Disease
Humans
Molecular Sequence Data
Muscles
Mutation
Phosphoglycerate Kinase

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