Article
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.
American journal of human genetics - 1 Feb 1998
Cavalier L, Ouahchi K, Kayden H J, Di Donato S, Reutenauer L, Mandel J L, Koenig M
Abstract excerpt
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 mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). We now have identified a total of 13 mutations in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.