Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis

BACKGROUND AND OBJECTIVES: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant systemic disease with variable penetrance and heterogeneous clinical presentation. Several effective treatments can reduce mortality and disability, though diagnosis remains challenging, especially i...

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Detalles Bibliográficos
Autores principales: Zampino, Serena, Sheikh, Farooq H., Vaishnav, Joban, Judge, Daniel, Pan, Baohan, Daniel, Amrita, Brown, Emily, Ebenezer, Gigi, Polydefkis, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10186220/
https://www.ncbi.nlm.nih.gov/pubmed/36941075
http://dx.doi.org/10.1212/WNL.0000000000207158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10186220/
https://www.ncbi.nlm.nih.gov/pubmed/36941075
http://dx.doi.org/10.1212/WNL.0000000000207158

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