Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.
BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is a hereditary cardiac condition associated with ventricular arrhythmias, heart failure, and sudden death. The disease is most often caused by mutations in the desmosomal gene for plakophilin-2 (PKP2), which is expressed in both myocardial and epiderma...
| Main Authors: | , , , , , , , , , , , , |
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| 格式: | Journal article |
| 語言: | English |
| 出版: |
Lippincott Williams and Wilkins
2014
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