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

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-onset parkinsonism has occasiona...

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Detalles Bibliográficos
Autores principales: Sakaue, Satoshi, Kasai, Takashi, Mizuta, Ikuko, Suematsu, Masaya, Osone, Shinya, Azuma, Yumiko, Imamura, Toshihiko, Tokuda, Takahiko, Kanno, Hitoshi, El-Agnaf, Omar M. A., Morimoto, Masafumi, Nakagawa, Masanori, Hosoi, Hajime, Mizuno, Toshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5459803/
https://www.ncbi.nlm.nih.gov/pubmed/28649613
http://dx.doi.org/10.1038/s41531-017-0014-4

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