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Heterozygous APTX Mutation Associated with Atypical Multiple System Atrophy-Like Phenotype: A Case Report

Alberto Imarisio,Andrea Pilotto,Alessandro Lupini,Giorgio Biasiotto,Isabella Zanella,Riccardo Curro,Elisa Vegezzi,Andrea Cortese,Ilaria Palmieri,Enza Maria Valente,Alessandro Padovani

Parkinsonism & Related Disorders（2024）

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关键词
Aprataxin,Multiple system atrophy,Parkinsonism,Oculomotor apraxia,APTX
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