FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

Milan Zimmermann,Stefanie Schuster,Sylvia Boesch,G Christoph Korenke, Julia Mohr,Jennifer Reichbauer,Christoph Kernstock,Dieter Kotzot, Veronika Spahlinger, Rebecca Schüle-Freyer,Ludger Schöls

Parkinsonism & Related Disorders（2020）

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摘要

•FIG4 mutations can lead to a phenotypical continuum between CMT4J and Yunis Varón syndrome.•FIG4-mutations can lead to a syndrome comprising a peripheral neuropathy, dysmophism and a central nervous system involement.•The syndrome can include a predominant Parkinsonism.

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关键词

CMT4J,Charcot-marie-tooth type 4J,Yunis varón syndrome,Cerebellar ataxia,Parkinsonism,Hereditary peripheral neuropathy

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