Article
A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.
Genes - 28 Sept 2022
Myasnikov Roman P, Kulikova Olga V, Meshkov Alexey N, Bukaeva Anna A, Kiseleva Anna V, Ershova Alexandra I, Petukhova Anna V, Divashuk Mikhail G, Zotova Evgenia D, Sotnikova Evgeniia A, Abisheva Alexandra A, Muraveva Alisa V, Koretskiy Sergey N, Popov Sergey V, Utkina Marina V, Snigir Ekaterina A, Mitrofanov Sergey I, Konureeva Ksenia D, Mershina Elena A, Sinitsyn Valentin E, Yudin Sergey M, Drapkina Oxana M
Abstract excerpt
Variants of the MYH7 gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of MYH7-related diseases are associated with such variant types as missense substitutions and in-frame indels. Thus, truncating variants in MYH7 (MYH7tv) and associated mechanism of haploinsufficiency are usually considered not pathogenic in these...
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