Article

Association of the transthyretin variant V122I with polyneuropathy among individuals of African descent

2020-11-13

Abstract excerpt

<h4>Introduction</h4> Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. The V122I variant, one of the most common pathogenic TTR mutations, is found in 3-4% of Black individuals, and has been associated with cardiomyopathy. <h4>Methods</h4> To better understand the phenotypic consequences of carrying V...

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Literature Corpus work: 3d2597fa-261f-507a-a5fa-0e13158f9f2f
DOI: 10.1101/2020.11.10.20219675

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