Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy

Francesco Muntoni(University of Cagliari), Milena Cau(University of Cagliari), Antonello Ganau, Rita Congiu(University of Cagliari), Giuseppina Arvedi, Anna Mateddu(University of Cagliari), Maria Giovanna Marrosu(University of Cagliari), Carlo Cianchetti(University of Cagliari), G. Realdi, Antonio Cao(University of Cagliari), Maria Antonietta Melis(University of Cagliari)
New England Journal of Medicine
September 23, 1993
Cited by 415Open Access
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Abstract

Several forms of hereditary dilated cardiomyopathy have been identified; with the exception of those resulting from mutations of mitochondrial DNA,1,2 no pathological finding can be used to differentiate the conditions, so their distinction depends on the pattern of transmission. Autosomal recessive, autosomal dominant, and matrilinear forms have been reported; several families with X-linked dilated cardiomyopathy have also been described3–5. X-linked dilated cardiomyopathy is a progressive myocardial disease presenting as congestive heart failure in teenage boys without clinical signs of skeletal myopathy5. No information is available on the pathogenetic defect involved in this disorder, although cardiomyopathy is . . .


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