End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic <i>C1QBP</i> Variants-Reference-Cited by-同舟云学术

End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants

Published:2022-04 Issue:2 Volume:15 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Wilcox Nicholas S.¹^ORCID,Prenner Stuart B.¹,Cevasco Marisa²,Condit Courtney³,Goldstein Amy⁴,Peterson James T.⁴,Tondi Resta Isabella⁵,Palmer Matthew⁵,Lal Priti⁵,Owens Anjali Tiku¹^ORCID,Pieretti Janice¹,Drivas Theodore G.³⁶^ORCID,Reza Nosheen¹^ORCID

Affiliation:

1. Division of Cardiovascular Medicine (N.S.W., S.B.P., A.T.O., J.P., N.R.), Perelman School of Medicine at the University of Pennsylvania.

2. Department of Medicine, Division of Cardiovascular Surgery, Department of Surgery (M.C.), Perelman School of Medicine at the University of Pennsylvania.

3. Division of Translational Medicine and Human Genetics (C.C., T.G.D.), Perelman School of Medicine at the University of Pennsylvania.

4. Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, PA (A.G., J.T.P.).

5. Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia (I.T.R., M.P., P.L.).

6. Department of Genetics (T.G.D.), Perelman School of Medicine at the University of Pennsylvania.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference5 articles.

1. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

2. Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene

3. A novel homozygous variant in C1QBP causes severe IUGR , edema, and cardiomyopathy in two fetuses

4. Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

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

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