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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Riboldi, Giulietta, Del Bo, Roberto, Ranieri, Michela, Magri, Francesca, Sciacco, Monica, Moggio, Maurizio, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2011
Assuntos:
Published: February 2011
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3072196/
https://ncbi.nlm.nih.gov/pubmed/21490715
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000324925
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados