Emery-Dreifuss syndrome: genetic and clinical varieties.
Am J Med Genet
; 50(3): 228-33, 1994 Apr 15.
Article
em En
| MEDLINE
| ID: mdl-8042665
ABSTRACT
Two familial and 2 sporadic cases of Emery-Dreifuss syndrome are reported. One family presented a rare autosomal dominant variant of Emery-Dreifuss muscular dystrophy, another with X-linked recessive inheritance showed unusual intrafamilial variability. One of sporadic cases closely resembled rigid spine syndrome, the other was clinically intermediate between Emery-Dreifuss muscular dystrophy and rigid spine syndrome, showing that they are not distinct disorders.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofias Musculares
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article