Article
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis.
Journal of human genetics - 1 Aug 2020
da Silva-Batista Jemima A, Marques Wilson, Oliveira Mayala Thayrine de J S, Lins Lucas Vergne C, Galvão Adilson Junior P, Miguel Diego Santana Chaves G, Machado-Costa Marcela Câmara
Abstract excerpt
Amyloidosis, caused by a mutation in the transthyretin (TTR) gene, is the most common hereditary type disease. More than 120 mutations have been described, with extensive phenotypic heterogeneity. Val30Met (p.Val50Met) is the most frequent mutation, and patients exhibit polyneuropathy, possibly including cardiac, renal, gastrointestinal, and/or ocular involvement. Val122Ile (p.Val142Ile) is the mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.