Article
Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.
Neuromuscular disorders : NMD - 1 Jul 2016
Durmuş-Tekçe Hacer, Matur Zeliha, Mert Atmaca Murat, Poda Mehves, Çakar Arman, Hıdır Ulaş Ümit, Oflazer-Serdaroğlu Piraye, Deymeer Feza, Parman Yesim G
Abstract excerpt
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic accumulation of amyloid fibrils that result in organ dysfunction. TTR-associated FAP is a progressive and fatal disease, if left untreated, and should be considered in the differential diagnosis of...
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