Article
Clinical and genetic findings in eight Israeli patients with transthyretin-associated familial amyloid polyneuropathy.
The Israel Medical Association journal : IMAJ - 1 Nov 2012
Leibou Lior, Frand Jacob, Sadeh Menachem, Lossos Alexander, Kremer Eyal, Livneh Avi, Yarnitsky David, Herman Oscar, Dabby Ron
Abstract excerpt
BACKGROUND: Transthyretin (TTR)-associated familial amyloid polyneuropathy (FAP) is an autosomal dominant multisystem disease with neurological and extra-neurological manifestations. It is caused by various mutations in the TTR gene leading to the formation of insoluble amyloid. OBJECTIVES: To describe the clinical and genetic findings in patients with TTR-associated FAP in Israel. METHODS: We evaluated eight...
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