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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Case Rep Neurol
Egile Nagusiak: Rota, Silvia, Marchina, Eleonora, Todeschini, Alice, Nanetti, Lorenzo, Rinaldi, Fabrizio, Vanotti, Alessandra, Mariotti, Caterina, Padovani, Alessandro, Filosto, Massimiliano
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2014
Gaiak:
Published online: December, 2014
Sarrera elektronikoa: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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