Cardiac transplantation in a Duchenne muscular dystrophy carrier.
Neuromuscul Disord
; 8(8): 585-90, 1998 Dec.
Article
em En
| MEDLINE
| ID: mdl-10093066
ABSTRACT
We report here for the first time the case of a symptomatic DMD carrier, who had a heart transplant for a severe dilated cardiomyopathy. Dystrophin immunohistochemistry, western blot and analysis of X-chromosome inactivation on leucocytes, and skeletal and cardiac muscle biopsies on the explanted heart were performed. The patient was a heterozygote for exons 50-52 deletion in the dystrophin gene. The number of dystrophin-deficient fibres in the heart was much higher than in skeletal muscle. On the other hand, the explanted heart showed a non-skewed pattern of X-chromosome inactivation, as in leukocytes and skeletal muscle. The adverse cardiac course may be explained by the absence of regeneration among cardiomyocytes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cardiomiopatia Dilatada
/
Transplante de Coração
/
Heterozigoto
/
Distrofias Musculares
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Neuromuscul Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Itália