Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations

Abstract 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...

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Hlavní autoři:	Sandra Milena Castellar-Leones, Edicson Ruiz-Ospina, Jorge Diaz-Ruiz, Cristian Correa-Arrieta, Xiomara Ruiz-Cortés, Diana Luzuriaga-Carpio, Dario Zambrano-Vera, Jeanneth Cedeño-Quincha, Luis Guerrero-Cepeda, Daniel César-Chávez, Fernando Ortiz-Corredor
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-12-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Hereditary transthyretin amyloidosis Quantitative sensory testing Composite Autonomic Symptom Score 31 Neuropathy Impairment Score Nerve ultrasound Nerve cross-sectional area
On-line přístup:	https://doi.org/10.1186/s13023-024-03496-0
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