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Article

Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report.

Journal of medical case reports - 28 Feb 2022

Karabinos Anton, Hyblova Michaela, Eckertova Miroslava, Tomkova Erika, Schwartzova Drahomira, Luckanicova Nikoleta, Magyarova Gabriela, Minarik Gabriel

Abstract excerpt

BACKGROUND: ACAT-related enzyme 2 required for viability 1 (ARV1) encodes a transmembrane lipid transporter of the endoplasmic reticulum, which is presented in all eukaryotes and in plants. Deficiency of ARV1 is clinically presented as autosomal recessive developmental and epileptic encephalopathy 38 (DEE38) in humans and in mice. So far, three different homozygous and two compound heterozygous ARV1 mutations in...

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Identifiers

PMID: 35227294
DOI: 10.1186/s13256-022-03291-0
PMCID: PMC8886762

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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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