Autosomal Recessive Cerebellar Ataxia Type 3 Due toANO10Mutations
نویسندگان
چکیده
منابع مشابه
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
IMPORTANCE ANO10 mutations have been reported to cause a novel form of autosomal recessive cerebellar ataxia (ARCA). Our objective was to report 9 ataxic patients carrying 8 novel ANO10 mutations to improve the delineation of this form of ARCA and provide genotype-phenotype correlation. OBSERVATIONS The ANO10 gene has been sequenced in 186 consecutive patients with ARCA. The detailed phenotyp...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2014
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2014.193