SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.

Giacomo Bitetto,Maria Chiara Malaguti,Roberto Ceravolo,Edoardo Monfrini,Letizia Straniero,Alberto Morini, Raffaella Di Giacopo,Daniela Frosini,Giovanni Palermo,Fabio Biella,Dario Ronchi,Stefano Duga,Franco Taroni,Stefania Corti,Giacomo P Comi,Nereo Bresolin,Bruno Giometto,Alessio Di Fonzo

Parkinsonism & Related Disorders（2020）

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摘要

Mutations in the gene encoding the mitochondrial carrier protein SLC25A46 are known to cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar hypoplasia.

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关键词

slc25a46 mutations,parkinson

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