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

Early-onset Parkinson’s disease: a new genetic link Mutations in the gene encoding phosphoglycerate kinase 1 (PGK-1) may confer susceptibility to early-onset Parkinson’s disease (PD). PGK-1 is a crucial protein for the breakdown of sugar in the body and mutations that cause PGK-1 deficiency lead to...

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Autores principales:	Satoshi Sakaue, Takashi Kasai, Ikuko Mizuta, Masaya Suematsu, Shinya Osone, Yumiko Azuma, Toshihiko Imamura, Takahiko Tokuda, Hitoshi Kanno, Omar M. A. El-Agnaf, Masafumi Morimoto, Masanori Nakagawa, Hajime Hosoi, Toshiki Mizuno
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/15d3dd6eba764c9cb76b11aebe524a0b
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Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?

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