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Novel Diagnostic Paradigms for Friedreich Ataxia
Friedreich ataxia is the most common inherited ataxia, with a wide phenotypic spectrum. It is generally caused by GAA expansions on both alleles of FXN, but a small percentage of patients are compound heterozygotes for a pathogenic expansion and a point mutation. Two recent diagnostic innovations ar...
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| Päätekijät: | , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2012
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3674546/ https://ncbi.nlm.nih.gov/pubmed/22752491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812448440 |
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