NewsJOURNAL OF THE AMERICAN HEART ASSOCIATIONThursday, May 14, 2026 · May 14, 2026
Pathogenic Characterization of a Novel G47R Transthyretin Mutation in Early-Onset Amyloid Cardiomyopathy.
WHY IT MATTERS
Recent peer-reviewed research on Hereditary ATTR amyloidosis that may be relevant for patients and caregivers.
Transthyretin amyloid cardiomyopathy is a progressive infiltrative cardiomyopathy driven by the deposition of amyloid fibrils derived from destabilized transthyretin (TTR). Although several pathogenic TTR variants have been characterized, the clinical significance and molecular behavior of rare muta...
Related conditions
Related news
Int J Circumpolar Health · -222 days ago
A population-based legacy study of myasthenia gravis in Iceland: insights from a small Arctic nation
Published in Int J Circumpolar Health. Hjaltason H et al.…
Ther Adv Rare Dis · -192 days ago
Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy
Published in Ther Adv Rare Dis. Mitha A et al.…
Health Inf Sci Syst · -192 days ago
PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy
Published in Health Inf Sci Syst. Zhai W et al.…
J Allergy Clin Immunol Glob · -39 days ago
Emerging trends and research hot spots in inborn error of immunity: A bibliometric perspective
Published in J Allergy Clin Immunol Glob. Alblooshi H et al.…