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
Autores principales: Rota, Silvia, Marchina, Eleonora, Todeschini, Alice, Nanetti, Lorenzo, Rinaldi, Fabrizio, Vanotti, Alessandra, Mariotti, Caterina, Padovani, Alessandro, Filosto, Massimiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2014
Materias:
Published online: December, 2014
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296233/
https://www.ncbi.nlm.nih.gov/pubmed/25685137
http://dx.doi.org/10.1159/000370062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296233/
https://www.ncbi.nlm.nih.gov/pubmed/25685137
http://dx.doi.org/10.1159/000370062

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