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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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| Publicado no: | Case Rep Neurol |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2014
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| Assuntos: | |
| Acesso em linha: | 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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