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Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the<jats:italic>PGK1<\/jats:italic>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. 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