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...

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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

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