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Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy

Cohen, N; Muntoni, F; (2004) Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. HEART , 90 (8) 835 - 841. 10.1136/hrt.2003.023390.

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Abstract

X linked dilated cardiomyopathy is a familial disease that is allelic to Duchenne and Becker muscular dystrophies and caused by mutations in the dystrophin gene. In several families with X linked dilated cardiomyopathy, the pattern of expression of dystrophin mutations in cardiac muscle differs from that in skeletal muscle. A number of these mutations affect transcription and splicing of the dystrophin gene in a tissue specific manner; others may affect regions of dystrophin that are presumed to have a more important role in cardiac than in skeletal muscle. These mutations are important because they highlight the fundamental differences in processing of the dystrophin gene between skeletal and cardiac tissues, as well as differences in the functional domains more relevant for one tissue or the other. This review focuses on the major mechanisms that have been proposed to explain this disorder.

Type: Article
Title: Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy
DOI: 10.1136/hrt.2003.023390
Keywords: BECKER MUSCULAR-DYSTROPHY, SKELETAL-MUSCLE, CLEAVES DYSTROPHIN, DMD-GENE, MUTATION, DUCHENNE, PROTEIN, DISEASE, PROMOTER, DELETION
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/83759
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