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Senataxin mutations and amyotrophic lateral sclerosis
We studied three patients with mutations in the senataxin gene (SETX). One had juvenile onset of ALS. The second case resembled hereditary motor neuropathy. The third patient had an overlap syndrome of ataxia-tremor and motor neuron disease, phenotypes previously associated with SETX mutations. Our...
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| Publicado en: | Amyotroph Lateral Scler |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2010
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7528023/ https://ncbi.nlm.nih.gov/pubmed/21190393 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/17482968.2010.545952 |
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