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Analysis of clinical pedigree characteristics in Chinese patients with ataxia with vitamin E deficiency.

Molecular genetics and metabolism - 1 Aug 2026

Lv Pu, Liu Lu, Hao Ying, Zhou Zhi, Chen Xin, Zhang Linwei

Abstract excerpt

The clinical and genetic features of ataxia with isolated vitamin E deficiency (AVED) patients in Chinese are remain not well understood. We enrolled 120 unrelated probands with clinically suspected autosomal recessive cerebellar ataxia (ARCA) at the Department of Neurology, China-Japan Friendship Hospital between 2014 and 2024. all probands underwent Whole-exome sequencing (WES), with candidate variants...

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Identifiers

PMID: 42259017
DOI: 10.1016/j.ymgme.2026.110167

Genes

TTPA

Variants

Provenance

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