Article

Clinical and Genetic Study of Ataxia With Vitamin E Deficiency

2021-02-05

Abstract excerpt

<h4>Background: </h4> Ataxia with Vitamin E deficiency (AVED) is a type of autosomal recessive cerebellar ataxia. The main clinical manifestation involves progressive cerebellar ataxia and movement disorders, α-tocopherol transfer protein( TTPA ) gene mutations are responsible for this disease. <h4>Methods: </h4> A female patient from a consanguineous Chinese family underwent detailed physical and auxiliary examin...

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Literature Corpus work: 230a2322-958d-5859-a7b0-a9027b1a03af
DOI: 10.21203/rs.3.rs-175944/v1

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