Associated Papers
Genetic Underpinnings of Mitochondrial Cardiomyopathy: A Scoping 2010-2024 Update.
Moudian I et al.
Dna and Cell Biology, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.
Wang J et al.
Frontiers in Pharmacology, 2025
40271067 (PubMed )
Supplement: Table1.xlsx › S2
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants.
Wilcox NS et al.
Circulation. Genomic and Precision Medicine, 2022
Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models.
Wang J et al.
Frontiers in Cardiovascular Medicine, 2022
Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.
Webster G et al.
American Journal of Medical Genetics. Part A, 2021
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses.
Alstrup M et al.
Jimd Reports, 2021
Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number.
Finsterer J
Human Mutation, 2020
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Marchet S et al.
Human Mutation, 2020
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Feichtinger RG et al.
American Journal of Human Genetics, 2017
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