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Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

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Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case ... ...