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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...
Gardado en:
| Publicado en: | Case Rep Neurol |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
S. Karger AG
2014
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| 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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