Article
The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice.
Human molecular genetics - 15 Nov 2004
De Repentigny Yves, Marshall Philip, Worton Ronald G, Kothary Rashmi
Abstract excerpt
A subset of patients harboring mutations in the dystrophin gene suffer from X-linked dilated cardiomyopathy (XLCM), a familial heart disease that is not accompanied by any clinical signs of skeletal muscle myopathy. As the muscle (M) isoform of dystrophin is not expressed in these patients, the absence of skeletal muscle symptoms has been attributed to expression of the brain (B) and cerebellar Purkinje (CP)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.