Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive neurodegenerative disease characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia. We recently have demonstrated that AVED is caused by mutatio...

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Autors principals: Cavalier, L, Ouahchi, K, Kayden, H J, Di Donato, S, Reutenauer, L, Mandel, J L, Koenig, M
Format: Artigo
Idioma:Inglês
Publicat: 1998
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376876/
https://ncbi.nlm.nih.gov/pubmed/9463307
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