Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

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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Bibliographic Details
Main Authors: Giulietta Riboldi, Roberto Del Bo, Michela Ranieri, Francesca Magri, Monica Sciacco, Maurizio Moggio, Nereo Bresolin, Stefania Corti, Giacomo P. Comi
Format: Article
Language:English
Published: Karger Publishers 2011-02-01
Series:Case Reports in Neurology
Subjects:
Amyloid neuropathy
Motor-sensory neuropathy
Transthyretin gene
Online Access:http://www.karger.com/Article/FullText/324925

Internet

http://www.karger.com/Article/FullText/324925

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