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Transthyretin-related hereditary amyloidosis in an Argentinian family with TTR Tyr114Cys mutation

Transthyretin-related hereditary amyloidosis is an autosomal dominant inherited disease caused for mutations in the transthyretin (TTR) gene. Corresponding to the various transthyretin gene mutations and a wide range of geographical distribution, this disorder presents diverse characteristics in genotype-phenotype correlation. Familial amyloid polyneuropathy (FAP) is the more common clinical presentation and the Val30Met is its more frequent mutation described [1].