Abstract
X-linked dilated cardiomyopathy (XLDCM) is a serious condition caused by abnormalities in the DMD gene (dystrophin gene). The affected patients did not have major skeletal weakness but presented with early signs of heart failure, and deteriorated quickly despite medical treatment resulting in early death. Currently there is no curative treatment and heart transplantation is often required. We study the pathomechanism of the DMD-associated XLDCM with mutation in the first exon-intron boundary, through examination of dystrophin isoforms expression and the functional characterization of the manifested cardiomyocytes generated from patient-derived induced pluripotent stem cells (IPSCs) compared to normal control.
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