TY  - JOUR
AU  - Minnerop, Martina
AU  - Bauer, Peter
TI  - Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene.
JO  - JAMA neurology
VL  - 72
IS  - 2
SN  - 2168-6149
CY  - Chicago, Ill.
PB  - American Medical Association
M1  - FZJ-2015-01809
SP  - 238 -239
PY  - 2015
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:25664549
UR  - <Go to ISI:>//WOS:000349619200022
DO  - DOI:10.1001/jamaneurol.2014.3918
UR  - https://juser.fz-juelich.de/record/188411
ER  -