Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous Variants

Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous Variants

Hypertrophic cardiomyopathy associated with damaging variants in the <i>ALPK3</i> gene is a fairly recent discovery, and only a small number of patients have been described thus far. Here we present two additional patients with hypertrophic cardiomyopathy caused by biallelic variants in...

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Bibliographic Details
Main Authors: John Jorholt, Yulia Formicheva, Tatyana Vershinina, Artem Kiselev, Alexey Muravyev, Elena Demchenko, Petr Fedotov, Anna Zlotina, Anton Rygkov, Elena Vasichkina, Thomas Sejersen, Anna Kostareva
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Genes
Subjects:
hypertrophic cardiomyopathy
alpha kinase 3
ALPK3
Online Access:https://www.mdpi.com/2073-4425/11/10/1201

Internet

https://www.mdpi.com/2073-4425/11/10/1201

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