A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy

A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy

Background: Hypertrophic cardiomyopathy is the most frequent autosomal dominant disease, yet due to genetic heterogeneity, incomplete penetrance, and phenotype variability, the prognosis of the disease course in pathogenic variant carriers remains an issue. Identifying common patterns among the effe...

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Bibliographic Details
Main Authors: Maria V. Golubenko, Elena N. Pavlyukova, Ramil R. Salakhov, Oksana A. Makeeva, Konstantin V. Puzyrev, Oleg S. Glotov, Valery P. Puzyrev, Maria S. Nazarenko
Format: Article
Language:English
Published: IMR Press 2024-02-01
Series:Frontiers in Bioscience-Scholar
Subjects:
hypertrophic cardiomyopathy
myh7
myosin converter domain
Online Access:https://www.imrpress.com/journal/FBS/16/1/10.31083/j.fbs1601001

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https://www.imrpress.com/journal/FBS/16/1/10.31083/j.fbs1601001

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