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Article

Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.

American journal of medical genetics. Part A - 1 Aug 2021

Webster Gregory, Reynolds Meredith, Arva Nicoleta C, Dellefave-Castillo Lisa M, McElligott Hilary S, Kofman Amber, Laboski Aleksandra, Magnetta Defne, George Alfred L, McNally Elizabeth M, Puckelwartz Megan J

Abstract excerpt

Patients with biallelic mutations in the nuclear-encoded mitochondrial gene C1QBP/p32 have been described with syndromic features and autosomal recessive cardiomyopathy. We describe the clinical course in two siblings who developed cardiomyopathy and ventricular fibrillation in infancy. We provide genomic analysis and clinical-pathologic correlation. Both siblings had profound cardiac failure with ventricular...

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Identifiers

PMID: 34003581
DOI: 10.1002/ajmg.a.62262
PMCID: PMC8924900

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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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