%0 Journal Article
%A Minnerop, Martina
%A Bauer, Peter
%T Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene.
%J JAMA neurology
%V 72
%N 2
%@ 2168-6149
%C Chicago, Ill.
%I American Medical Association
%M FZJ-2015-01809
%P 238 -239
%D 2015
%X With great interest we read the article by Renaud et al1 reporting a case series of 9 patients with autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations. The authors discussed the previously reported c.132dupA mutation with a heterozygote carrier frequency of 1/184 and postulated that the homozygote state of this mutation would either have a more severe phenotype or not be viable at all.
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:25664549
%U <Go to ISI:>//WOS:000349619200022
%R 10.1001/jamaneurol.2014.3918
%U https://juser.fz-juelich.de/record/188411