Lethal cardiac conduction defects in Emery-Dreifuss muscular dystrophy.
Significant cardiac conduction defects were a prominent feature of a kindred suffering from Emery-Dreifuss muscular dystrophy and 3 affected males were treated by insertion of permanent cardiac pacemakers. Because of the rarity of this disorder and for the sake of further phenotype delineation, results of clinical, genetic and biochemical investigations of the affected males and obligate carrier females are presented and discussed.
Oswald
A H
AH
Department of Human Genetics, University of Cape Town, RSA.
Goldblatt
J
J
Horak
A R
AR
Beighton
P
P
D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics; D002675:Child, Preschool; D006329:Heart Conduction System / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome