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

Autor:	Giuseppe Realdi, Francesco Muntoni, Antonello Ganau, Milena Cau, Maria Giovanna Marrosu, R. Congiu, Giuseppina Arvedi, Carlo Cianchetti, Antonio Cao, Anna Mateddu, Maria Antonietta Melis
Rok vydání:	1993
Předmět:	Mitochondrial DNA Pathology medicine.medical_specialty biology business.industry Duchenne muscular dystrophy Cardiomyopathy Dilated cardiomyopathy General Medicine medicine.disease Heart failure medicine biology.protein medicine.symptom Dystrophin business Myopathy X chromosome
Zdroj:	New England Journal of Medicine. 329:921-925
ISSN:	1533-4406 0028-4793
DOI:	10.1056/nejm199309233291304
Popis:	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 . . .
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::70d7293b3a523d460f1b24108f60000a https://doi.org/10.1056/nejm199309233291304 Zobrazit plný text záznamu