DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION

Aim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy.Material and methods. The object of the study: proband with non-comp...

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Main Authors: R. P. Myasnikov, N. V. Shcherbakova, О. V. Kulikova, А. N. Meshkov, M. S. Kharlap, А. V. Kiseleva, А. А. Zharikova, Е. L. Dadali, N. A. Semenova, S. N. Koretsky, О. V. Blagova, Е. А. Mershina, V. Е. Sinitsyn, О. М. Drapkina, S. А. Boytsov
Format: Artigo
Language:Russo
Published: «FIRMA «SILICEA» LLC 2017-11-01
Series:Российский кардиологический журнал
Subjects:
des
exome sequencing
left ventricular non-compaction cardiomyopathy
cardiomyopathy
myofibrillar myopathy
cardiac transplantation
skeletal myopathy
heart failure
sudden cardiac death
Online Access:https://russjcardiol.elpub.ru/jour/article/view/2532
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