Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
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...
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Published in | Heart (British Cardiac Society) Vol. 78; no. 6; pp. 608 - 612 |
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Main Authors | , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
London
BMJ Publishing Group Ltd and British Cardiovascular Society
01.12.1997
BMJ BMJ Publishing Group LTD |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | PMID:9470882 local:heartjnl;78/6/608 istex:01DB873782FA17E5B34262CC9C493F9466B70CE2 ark:/67375/NVC-CX8SJ2XV-M href:heartjnl-78-608.pdf ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 1355-6037 1468-201X |
DOI: | 10.1136/hrt.78.6.608 |