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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Autors principals: Riboldi, Giulietta, Del Bo, Roberto, Ranieri, Michela, Magri, Francesca, Sciacco, Monica, Moggio, Maurizio, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P.
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2011
Matèries:
Published: February 2011
Accés en línia: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
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