Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy

摘要

Two new cases of dilated cardiomyopathy (DC) caused by dystrophinopathy are reported. One patient a 24 year old mean, had a family history of X linked DC, while the other, a 52 year old man, had sporadic disease. Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness. Serum creatine kinase activity was raised only in the patient with familial disease. Analysis of dystrophin gene mu- tations showed a deletion of eons 48-49 in the patient with familial DC and of exons 49-51 in the other.