A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.
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Dupuy O, Bletry O, Blanc AS, Droz D, Viemont M, Delpech M, Grateau G
A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.
Amyloid. 1998 Dec;5(4):285-7.
- PubMed ID
- 10036587 [ View in PubMed]
- 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.