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Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia

Ataxia with vitamin E deficiency is an autosomal recessive condition associated with a defect in the α-tocopherol transfer protein. Clinically it manifests as a progressive ataxia with a phenotype resembling that of Friedreich's ataxia. There is some evidence that progression of neurological sy...

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Bibliografski detalji
Glavni autori: Hammans, S, Kennedy, C
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 1998
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2170015/
https://ncbi.nlm.nih.gov/pubmed/9527151
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