Oswald A H, Goldblatt J, Horak A R, Beighton P
Department of Human Genetics, University of Cape Town, RSA.
S Afr Med J. 1987 Oct 17;72(8):567-70.
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.
显著的心脏传导缺陷是一个患有Emery-Dreifuss肌营养不良症家族的突出特征，3名患病男性接受了永久性心脏起搏器植入治疗。由于这种疾病罕见，为了进一步明确其表型，本文展示并讨论了对患病男性和必然携带者女性的临床、遗传和生化研究结果。
