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A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms and FTD
We have recently published data showing that a founder mutation of the TARDBP gene (p.A382T) accounts for approximately one third of ALS cases on the Mediterranean island of Sardinia (Chiò et al, 2011). In that report, we identified 53 years-old man carrying a homozygous A382T missense mutation of t...
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| Главные авторы: | , , , , , , , , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2011
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3192246/ https://ncbi.nlm.nih.gov/pubmed/21803454 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2011.06.009 |
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