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Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) tr...

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Detalles Bibliográficos
Publicado en:Case Rep Neurol
Main Authors: Rota, Silvia, Marchina, Eleonora, Todeschini, Alice, Nanetti, Lorenzo, Rinaldi, Fabrizio, Vanotti, Alessandra, Mariotti, Caterina, Padovani, Alessandro, Filosto, Massimiliano
Formato: Artigo
Idioma:Inglês
Publicado: S. Karger AG 2014
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4296233/
https://ncbi.nlm.nih.gov/pubmed/25685137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000370062
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