A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report

BACKGROUND: Hereditary transthyretin (ATTRv) amyloidosis is a rare, genetically heterogeneous and phenotypically variable systemic disease characterized by deposition of misfolded transthyretin fibrils in various tissues. ATTRv cardiomyopathy and progressive axonal polyneuropathy are the most common...

Descripción completa

Detalles Bibliográficos
Autores principales: Thimm, Andreas, Oubari, Sara, Hoffmann, Julia, Carpinteiro, Alexander, Papathanasiou, Maria, Luedike, Peter, Kessler, Lukas, Rischpler, Christoph, Röcken, Christoph, Diebold, Isabel, Rassaf, Tienush, Schmidt, Hartmut, Kleinschnitz, Christoph, Hagenacker, Tim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733290/
https://www.ncbi.nlm.nih.gov/pubmed/36494773
http://dx.doi.org/10.1186/s12883-022-02952-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733290/
https://www.ncbi.nlm.nih.gov/pubmed/36494773
http://dx.doi.org/10.1186/s12883-022-02952-3

Ejemplares similares