Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?

<p dir="ltr">Phosphoglycerate kinase 1 (PGK-1) is a glycolytic enzyme encoded by PGK-1, which maps to the X chromosome. PGK-1 deficiency causes X-linked recessive hereditary chronic hemolytic anemia, myopathy, and neurological disorders due to insufficient ATP regeneration. Early-ons...

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Main Author: Satoshi Sakaue (19725322) (author)
Other Authors: Takashi Kasai (718121) (author), Ikuko Mizuta (6578597) (author), Masaya Suematsu (12006506) (author), Shinya Osone (769429) (author), Yumiko Azuma (318823) (author), Toshihiko Imamura (769424) (author), Takahiko Tokuda (105837) (author), Hitoshi Kanno (5439200) (author), Omar M. A. El-Agnaf (8809331) (author), Masafumi Morimoto (4633492) (author), Masanori Nakagawa (105840) (author), Hajime Hosoi (259258) (author), Toshiki Mizuno (105838) (author)
Published: 2017
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