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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Hlavní autoři: Riboldi, Giulietta, Del Bo, Roberto, Ranieri, Michela, Magri, Francesca, Sciacco, Monica, Moggio, Maurizio, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P.
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2011
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Published: February 2011
On-line přístup: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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