Myopathy and parkinsonism in phosphoglycerate kinase deficiency
E Sotiriou, P Greene, S Krishna… - Muscle & Nerve …, 2010 - Wiley Online Library
E Sotiriou, P Greene, S Krishna, M Hirano, S DiMauro
Muscle & Nerve: Official Journal of the American Association of …, 2010•Wiley Online LibraryA 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 …
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 …
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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