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Emery-Dreifuss muscular dystrophy

1984; Elsevier BV; Volume: 104; Issue: 4 Linguagem: Inglês

10.1016/s0022-3476(84)80546-6

1097-6833

Robert P. Dickey, Fred A. Ziter, Ruth Ann Smith,

Cardiomyopathy and Myosin Studies

Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac disease by mid-adulthood. The atrial arrhythmias are treatable by pacemaker if the diagnosis is established beforehand. Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac disease by mid-adulthood. The atrial arrhythmias are treatable by pacemaker if the diagnosis is established beforehand.