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Article

Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.

Genes - 15 Oct 2020

Jorholt John, Formicheva Yulia, Vershinina Tatyana, Kiselev Artem, Muravyev Alexey, Demchenko Elena, Fedotov Petr, Zlotina Anna, Rygkov Anton, Vasichkina Elena, Sejersen Thomas, Kostareva Anna

Abstract excerpt

Hypertrophic cardiomyopathy associated with damaging variants in the ALPK3 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 ALPK3. Genetic investigation was performed using a targeted gene panel consisting of known cardiomyopathy-associated genes and whole...

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Identifiers

PMID: 33076350
DOI: 10.3390/genes11101201
PMCID: PMC7602582

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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