New variant of PRDM16 gene nucleotide sequence in a family with various phenotypic manifestations of the non-compacted myocardium

New variant of PRDM16 gene nucleotide sequence in a family with various phenotypic manifestations of the non-compacted myocardium

The article presents the examination of three generations of a family with diagnosed left ventricular noncompaction (LVNC) and various phenotypic manifestations of the disease (isolated, hypertrophic and dilated type of LVNC). As a result of a molecular genetics tests, a previously undescribed singl...

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Main Authors: R. P. Myasnikov, A. A. Bukaeva, O. V. Kulikova, A. I. Ershova, A. V. Petukhova, E. D. Zotova, A. N. Meshkov, E. A. Mershina, A. V. Kiseleva, M. G. Divashuk, P. S. Pilyus, M. S. Kharlap, V. M. Mikova, S. N. Koretsky, L. A. Gandaeva, V. E. Sinitsyn, E.. N. Basargina, S. A. Boytsov, E. A. Snigir, A. I. Akinshina, D. A. Kashtanova, V. V. Makarov, V. S. Yudin, O. M. Drapkina
Format: Article
Language:Russian
Published: «FIRMA «SILICEA» LLC 2021-04-01
Series:Российский кардиологический журнал
Subjects:
non-compacted myocardium
sequencing
phenotype
prdm16
Online Access:https://russjcardiol.elpub.ru/jour/article/view/4315
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