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Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency
Author(s) -
Tsujino Seiichi,
Shanske Sara,
DiMauro Salvatore
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181411
Subject(s) - phosphoglycerate kinase , myopathy , myoglobinuria , missense mutation , genetics , biology , mutation , genetic heterogeneity , gene , x chromosome , medicine , rhabdomyolysis , phenotype
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 myoglobinuria. So far, 20 PGK variants with reduced PGK activity have been identified, 8 of them in patients with myopathy. Six missense mutations and one splice‐junction mutation have been identified in 7 patients, 2 of whom had myopathy. However, the biochemical and molecular bases for clinical heterogeneity in PGK deficiency remain unknown. © 1995 John Wiley & Sons, Inc.