A Novel Transthyretin Gene Mutation in Hereditary Transthyretin Amyloidosis: A Case Series of Met13dup Patients.

Hereditary transthyretin cardiac amyloid cardiomyopathy (ATTR-CMP) is caused by the accumulation of misfolded amyloid proteins produced by transthyretin (TTR) gene mutations.(1)2)) Mutations can cause various phenotypic manifestations affecting multiple organs, including the heart and nerves. More than 140 mutations have been identified, and their distributions vary among regions.(3)4)) While Val30Met is the most common TTR mutation worldwide, Asp38Ala is the most prevalent type in South Korea. Here we describe a series of a novel TTR gene mutation, Met13dup, which manifested as a mixed phenotype of polyneuropathy and cardiomyopathy.