Article
Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.
Orphanet journal of rare diseases - 20 Dec 2024
Castellar-Leones Sandra Milena, Ruiz-Ospina Edicson, Diaz-Ruiz Jorge, Correa-Arrieta Cristian, Ruiz-Cortés Xiomara, Luzuriaga-Carpio Diana, Zambrano-Vera Dario, Cedeño-Quincha Jeanneth, Guerrero-Cepeda Luis, César-Chávez Daniel, Ortiz-Corredor Fernando
Abstract excerpt
BACKGROUND: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients...
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