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Friedreich’s ataxia: Pathology, pathogenesis, and molecular genetics
The pathogenic mutation in Friedreich’s ataxia (FRDA) is a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a transcriptional defect of the frataxin gene. Deficiency of frataxin, a small mitochondrial protein, is responsible for all clinical and...
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| Autor principal: | |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2011
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| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3062632/ https://ncbi.nlm.nih.gov/pubmed/21315377 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2011.01.010 |
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