TY - JOUR T1 - Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy JF - Heart JO - Heart SP - 608 LP - 612 DO - 10.1136/hrt.78.6.608 VL - 78 IS - 6 AU - Francesco Muntoni AU - Andrea Di Lenarda AU - Maurizio Porcu AU - Gianfranco Sinagra AU - Anna Mateddu AU - Gianni Marrosu AU - Alessandra Ferlini AU - Milena Cau AU - Jelena Milasin AU - Maria Antonietta Melis AU - Maria Giovanna Marrosu AU - Carlo Cianchetti AU - Antonio Sanna AU - Arturo Falaschi AU - Fulvio Camerini AU - Mauro Giacca AU - Luisa Mestroni Y1 - 1997/12/01 UR - http://heart.bmj.com/content/78/6/608.abstract N2 - Two new cases of dilated cardiomyopathy (DC) caused by dystrophinopathy are reported. One patient, a 24 year old man, 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 mutations showed a deletion of exons 48–49 in the patient with familial DC and of exons 49–51 in the other. Dystrophin transcription in cardiac tissue from the patient with sporadic disease showed abundant expression, predominantly of the muscle isoform. This study, together with previous reports, suggests that some patients with DC have a dystrophinopathy that can be diagnosed using a combination of biochemical and genetic analyses. ER -