alexa Elena Elvira Soler | OMICS International
ISSN: 2329-6895

Journal of Neurological Disorders
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Elena Elvira Soler

Spain
Publications

Friedreich Ataxia: Clinical Report of an Uncommon Point Mutation (R165C)

Introduction: Friedreich ataxia (FRDA) is the most common hereditary ataxia now. It is inherited as an autosomal recessive disease. Most of the patients are homozygotes, with an expansion of a GAA triplet in both alleles of the first intron of the frataxin gene (FXN, 9q13) (95-98% of the patients). The rest of the patients are heterozygotes with an... Read More»

Rosa María García Tercero, Javier Gualda Heras, Catalina Diaz Urrea, Pedro Barredo Benitez, Adolfo Heras Pérez, Fátima Ló pez González, Blanca serrano Serrano, Elena Elvira Soler and Carmina Díaz Marín

Case Report: J Neurol Disord 2017, 5:376

DOI: 10.4172/2329-6895.1000376

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