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Myopathy and parkinsonism in phosphoglycerate kinase deficiency

✍ Scribed by Evangelia Sotiriou; Paul Greene; Sindu Krishna; Michio Hirano; Salvatore DiMauro

Book ID
102533051
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
208 KB
Volume
41
Category
Article
ISSN
0148-639X

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✦ Synopsis

Abstract

A 25‐year‐old man with exertional myoglobinuria had no evidence of hemolytic anemia, but he had severe parkinsonism that was responsive to levodopa. Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the PGK1 gene identified the p.T378P mutation that was recently reported in a patient with isolated myopathy. This case reinforces the concept that PGK deficiency is a clinically heterogeneous disorder and raises the question of a relationship between PGK deficiency and idiopathic juvenile Parkinson disease. Muscle Nerve, 2010

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## Abstract The X‐linked recessive disease phosphoglycerate kinase (PGK) deficiency is caused by altered expression of the PGK1 enzyme, which causes muscle stiffness, hemolytic anemia, and mental retardation. In this study we characterized the __PGK1__ gene in a family of two brothers, two sisters,