Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation
Transthyretin (TTR) amyloidosis, the most frequent form of hereditary amyloidosis, is caused by dominant mutations in the TTR gene. More than 100 mutations have been identified. Clinical manifestations of TTR amyloidosis are usually induced by extracellular amyloid deposition in several organs. The...
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| Principais autores: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Karger Publishers
2011-02-01
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| coleção: | Case Reports in Neurology |
| Assuntos: | |
| Acesso em linha: | http://www.karger.com/Article/FullText/324925 |
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