Article
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
JAMA neurology - 1 Oct 2014
Renaud Mathilde, Anheim Mathieu, Kamsteeg Erik-Jan, Mallaret Martial, Mochel Fanny, Vermeer Sascha, Drouot Nathalie, Pouget Jean, Redin Claire, Salort-Campana Emmanuelle, Kremer Hubertus P H, Verschuuren-Bemelmans Corien C, Muller Jean, Scheffer Hans, Durr Alexandra, Tranchant Christine, Koenig Michel
Abstract excerpt
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 phenotype of patients with...
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