RT Journal Article
SR Electronic
T1 Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
JF Heart
JO Heart
FD BMJ Publishing Group Ltd and British Cardiovascular Society
SP 608
OP 612
DO 10.1136/hrt.78.6.608
VO 78
IS 6
A1 Francesco Muntoni
A1 Andrea Di Lenarda
A1 Maurizio Porcu
A1 Gianfranco Sinagra
A1 Anna Mateddu
A1 Gianni Marrosu
A1 Alessandra Ferlini
A1 Milena Cau
A1 Jelena Milasin
A1 Maria Antonietta Melis
A1 Maria Giovanna Marrosu
A1 Carlo Cianchetti
A1 Antonio Sanna
A1 Arturo Falaschi
A1 Fulvio Camerini
A1 Mauro Giacca
A1 Luisa Mestroni
YR 1997
UL http://heart.bmj.com/content/78/6/608.abstract
AB 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.