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Neuromuscular disease
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Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas
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- Published on: 17 January 2017
- Published on: 17 January 2017Re: A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: Upper limp onset of symptomsShow More
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by the mutations of the transthyretin (TTR) gene. The mutant amyloidogenic TTR protein causes systemic accumulation of amyloid fibrils that result in organ dysfunction [1]. Over 100 mutations in TTR gene are associated with the disease but still, the first identified Val30Met mutation make up 50% of the cases worldwide....
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