Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis

Yanyu Lu, Haiying Xing,Chang Liu,Diandian Huang,Chengyue Sun,Meng Yu,Lingchao Meng,He Lv,Wei Zhang,Zhaoxia Wang,Yun Yuan,Zhiying Xie

Pediatric Neurology（2023）

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摘要

Our study confirms that pathogenic PSAT1 variants can cause a mild phenotype, predominantly as autosomal recessive axonal Charcot-Marie-Tooth disease.

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关键词

PSAT1,Serine,Peripheral neuropathy,Charcot-Marie-Tooth disease

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