MYOPATHY AND PARKINSONISM IN PHOSPHOGLYCERATE KINASE DEFICIENCY

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 w...

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Udgivet i:Muscle Nerve
Main Authors: SOTIRIOU, EVANGELIA, GREENE, PAUL, KRISHNA, SINDU, HIRANO, MICHIO, DIMAURO, SALVATORE
Format: Artigo
Sprog:Inglês
Udgivet: 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8285082/
https://ncbi.nlm.nih.gov/pubmed/20151463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.21612
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