Article
Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Sept 2005
Holmgren Gösta, Hellman Urban, Anan Intissar, Lundgren Hans-Eric, Jonasson Jenni, Stafberg Christina, Fahoum Sämi, Suhr Ole B
Abstract excerpt
We report two new amyloidogenic transthyretin (TTR) variants detected in the Swedish population. One variant was previously unknown, while the other has been described in a French family. In Swedish patients, both variants have caused late-onset cardiac amyloidosis characterised by heart failure. In both cases, the diagnosis was determined by the detection of amyloid deposits in skin and/or rectal biopsies and...
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