Article
Emery-Dreifuss syndrome: genetic and clinical varieties.
American journal of medical genetics - 15 Apr 1994
Rudenskaya G E, Ginter E K, Petrin A N, Djomina N A
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Child
- Contracture
- Female
- Genes, Dominant
- Heart Block
- Humans
- Infant, Newborn
- Male
- Muscular Atrophy
- Muscular Dystrophies