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Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson’s disease

BACKGROUND: Mutations in the F-box protein 7 (FBXO7) gene result in autosomal recessive parkinsonism. This usually manifests as early-onset parkinsonian-pyramidal syndrome but patients exhibit high phenotypic variability. Here we describe the findings of a Yemeni family with two novel FBXO7 mutation...

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Bibliografske podrobnosti
izdano v:	Parkinsonism Relat Disord
Main Authors:	Lorenzo-Betancor, Oswaldo, Lin, Yi-Han, Samii, Ali, Jayadev, Suman, Kim, Hojoong M., Longfellow, Katelan, Distad, B. Jane, Yearout, Dora, Mata, Ignacio F., Zabetian, Cyrus P.
Format:	Artigo
Jezik:	Inglês
Izdano:	2020
Teme:	Article
Online dostop:	https://ncbi.nlm.nih.gov/pmc/articles/PMC8110511/ https://ncbi.nlm.nih.gov/pubmed/33002721 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2020.09.035
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Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson’s disease

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