Emery-Dreifuss syndrome: genetic and clinical varieties.
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.
Rudenskaya
G E
GE
Research Centre of Medical Genetics, Academy of Medical Sciences, Moscow, Russia.
Ginter
E K
EK
Petrin
A N
AN
Djomina
N A
NA
D000293:Adolescent; D000328:Adult; D002648:Child; D003286:Contracture / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006327:Heart Block / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014960:X Chromosome