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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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| Pubblicato in: | Case Rep Neurol |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
S. Karger AG
2014
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| Soggetti: | |
| Accesso online: | 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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