Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features

OBJECTIVE: Amyloidosis due to the transthyretin Ser77Tyr mutation (ATTRS77Y) is a rare autosomal‐dominant disorder, characterized by carpal‐tunnel syndrome, poly‐ and autonomic‐neuropathy, and cardiomyopathy. However, related symptoms and signs are often nonspecific and confirmatory tests are requir...

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Detalles Bibliográficos
Autores principales: Dori, Amir, Arad, Michael, Wasserstrum, Yishay, Pollak, Arthur, Nikitin, Vera, Ben‐David, Merav, Shamash, Jana, Nahum, Ayelet Hashachar, Shavit‐Stein, Efrat, Domachevsky, Liran, Kuperstein, Rafael, Dominissini, Dan, Shelestovich, Natalia, Sadeh, Menachem, Pras, Elon, Greenbaum, Lior
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10109316/
https://www.ncbi.nlm.nih.gov/pubmed/36772971
http://dx.doi.org/10.1002/acn3.51741

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10109316/
https://www.ncbi.nlm.nih.gov/pubmed/36772971
http://dx.doi.org/10.1002/acn3.51741

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