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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Detalles Bibliográficos
Autores principales: Riboldi, Giulietta, Del Bo, Roberto, Ranieri, Michela, Magri, Francesca, Sciacco, Monica, Moggio, Maurizio, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P.
Formato: Texto
Lenguaje:English
Publicado: S. Karger AG 2011
Materias:
Published: February 2011
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072196/
https://www.ncbi.nlm.nih.gov/pubmed/21490715
http://dx.doi.org/10.1159/000324925

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072196/
https://www.ncbi.nlm.nih.gov/pubmed/21490715
http://dx.doi.org/10.1159/000324925

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