BARTH SYNDROME IN PRACTICE OF CARDIOLOGY

BARTH SYNDROME IN PRACTICE OF CARDIOLOGY

Barth syndrome is an X-bound inherited recessive disorder with the prevalenсe 1:300000 — 1:400000 of live bornt, caused by mutations in the gene TAZ; manifesting with dilation cardiomyopathy, neutropenia, proxymal myopathy, delayed physical and motoric development. In the article, a clinical case pr...

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Bibliographic Details
Main Authors: O. V. Melnik, T. S. Loevets, T. L. Vershinina, A. Ya. Gudkova, Yu. V. Fomicheva, A. A. Kostareva, T. M. Pervunina, E. S. Vasichkina
Format: Article
Language:Russian
Published: «FIRMA «SILICEA» LLC  2018-04-01
Series:Российский кардиологический журнал
Subjects:
barth syndrome
dilation cardiomyopathy
non-compaction myocardium
sudden death
neutropenia
myopathy
Online Access:https://russjcardiol.elpub.ru/jour/article/view/2654

Internet

https://russjcardiol.elpub.ru/jour/article/view/2654

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