Rudenskaya G E, Ginter E K, Petrin A N, Djomina N A
Research Centre of Medical Genetics, Academy of Medical Sciences, Moscow, Russia.
Am J Med Genet. 1994 Apr 15;50(3):228-33. doi: 10.1002/ajmg.1320500304.
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.
