Carvajal syndrome: a brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene
Mutations in the genes encoding desmosomal proteins cause a wide range of diseases associated with abnormalities of the skin, hair and heart. In 45-50% these mutations determine the development of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 autosomal dominant and autosomal...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
«FIRMA «SILICEA» LLC
2018-11-01
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| Series: | Российский кардиологический журнал |
| Subjects: | |
| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/2798 |