Article
A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2015
Lohmann Ebba, Coquel Anne-Sophie, Honoré Aurélie, Gurvit Hakan, Hanagasi Hasmet, Emre Murat, Leutenegger Anne L, Drouet Valérie, Sahbatou Mourad, Guven Gamze, Erginel-Unaltuna Nihan, Deleuze Jean-Francois, Lesage Suzanne, Brice Alexis
Abstract excerpt
BACKGROUND: Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations. METHODS: Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members...
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