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

Abstract 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 mos...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Andreas Thimm, Sara Oubari, Julia Hoffmann, Alexander Carpinteiro, Maria Papathanasiou, Peter Luedike, Lukas Kessler, Christoph Rischpler, Christoph Röcken, Isabel Diebold, Tienush Rassaf, Hartmut Schmidt, Christoph Kleinschnitz, Tim Hagenacker
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2022-12-01
Цуврал:	BMC Neurology
Нөхцлүүд:	Amyloid cardiomyopathy Amyloid neuropathy TTR mutation Tafamidis Patisiran Case report
Онлайн хандалт:	https://doi.org/10.1186/s12883-022-02952-3
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!