Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.
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.
Cohen
N
N
Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, UK.
Muntoni
F
F
D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016189:Dystrophin / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
D016189:Dystrophin