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Case Reports
. 1998 Dec;5(4):285-7.
doi: 10.3109/13506129809007302.

A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis

O Dupuy  1 , O Blétry, A S Blanc, D Droz, M Viémont, M Delpech, G Grateau
Affiliations
Case Reports

A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis

O Dupuy et al. Amyloid. 1998 Dec.

Abstract

A sixty-three year old French man presented with isolated late-onset amyloid cardiomyopathy proven by endomyocardial biopsy. There was no known family history of amyloidosis. Immunohistochemistry of cardiac deposits suggested that amyloi fibrils were derived from transthyretin. DNA sequencing revealed a point mutation in exon 2 of the transthyretin gene responsible for a novel amyloidogenic variant Asp42.

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