A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.
Amyloid
; 5(4): 285-7, 1998 Dec.
Article
em En
| MEDLINE
| ID: mdl-10036587
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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Base de dados:
MEDLINE
Assunto principal:
Pré-Albumina
/
Ácido Aspártico
/
Ácido Glutâmico
/
Cardiopatias
/
Amiloidose
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article