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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Bibliografski detalji
Glavni autori: Giulietta Riboldi, Roberto Del Bo, Michela Ranieri, Francesca Magri, Monica Sciacco, Maurizio Moggio, Nereo Bresolin, Stefania Corti, Giacomo P. Comi
Format: Članak
Jezik:English
Izdano: Karger Publishers 2011-02-01
Serija:Case Reports in Neurology
Teme:
Amyloid neuropathy
Motor-sensory neuropathy
Transthyretin gene
Online pristup:http://www.karger.com/Article/FullText/324925

Internet

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

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