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...

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Hlavní autoři: T. G. Vaikhanskaya, L. N. Sivitskaya, T. V. Kurushko, D. P. Ermakovich, E. V. Zasim, N. G. Danilenko
Médium: Artigo
Jazyk:Russo
Vydáno: «FIRMA «SILICEA» LLC 2018-11-01
Edice:Российский кардиологический журнал
Témata:
desmoplakin
dilated cardiomyopathy
keratoderma
wooly hair
carvajal syndrome
naxos syndrome
placoglobin
On-line přístup:https://russjcardiol.elpub.ru/jour/article/view/2798
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