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Juvenile-onset parkinsonism with pyramidal signs due to compound heterozygous mutations in the F-Box only protein 7 gene.

Parkinsonism & related disorders - 1 Feb 2018

Wei Lei, Ding Li, Li Haiyan, Lin Yinyao, Dai Yongqiang, Xu Xiaofeng, Dong Qing, Lin Yanjun, Long Ling

Abstract excerpt

BACKGROUND: Juvenile-onset parkinsonism is often caused by genetic factors. Mutations in several autosomal genes, including the F-box only protein 7 (FBXO7) gene, have been found in patients suffering from juvenile-onset parkinsonism with pyramidal signs. Only five types of FBXO7 mutations have been described. Here, we present a case report about a Chinese patient presenting with juvenile-onset parkinsonism...

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Identifiers

PMID: 29174172
DOI: 10.1016/j.parkreldis.2017.11.332

Genes

FBXO7

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