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Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features
Two patients with a progressive ataxia are presented with clinical features consistent with classic Friedreich's ataxia (FRDA), but also with features unusual for FRDA. Analysis of DNA showed that each patient is heterozygous for the expanded GAA repeat of FRDA, but carries a base change on his...
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| Autori principali: | , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Group
2000
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1736939/ https://ncbi.nlm.nih.gov/pubmed/10766903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.68.5.661 |
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