Article
A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report.
BMC neurology - 9 Dec 2022
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
Abstract excerpt
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 manifestations, leading to severe disability and ultimately death within approximately ten years. As...
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