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

Authors
Dupuy, O Bletry, O Blanc, AS Droz, D Viemont, M Delpech, M Grateau, G
Citation
O. Dupuy et al., A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis, AMYLOID, 5(4), 1998, pp. 285-287
Citations number
8
Categorie Soggetti
Medical Research General Topics
Journal title
AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
ISSN journal
13506129 → ACNP
Volume
5
Issue
4
Year of publication
1998
Pages
285 - 287
Database
ISI
SICI code
1350-6129(199812)5:4<285:ANVOT(>2.0.ZU;2-4
Abstract
A sixty-three year old French man presented with isolated late-onset amyloi d 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 reveal ed a point mutation in exon 2 of the transthyretin gene responsible for a n ovel amyloidogenic variant Asp42.