Literature DB >> 35119291

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

Nicholas S Wilcox1, Stuart B Prenner1, Marisa Cevasco2, Courtney Condit3, Amy Goldstein4, James T Peterson4, Isabella Tondi Resta5, Matthew Palmer5, Priti Lal5, Anjali Tiku Owens1, Janice Pieretti1, Theodore G Drivas3,6, Nosheen Reza1.   

Abstract

Entities:  

Keywords:  cardiomyopathies; extracorporeal membrane; genome; heart transplantation; metabolic diseases; mitochondrial diseases; oxygenation; shock, cardiogenic

Mesh：

Substances：

Year:  2022        PMID： 35119291      PMCID： PMC9085452          DOI： 10.1161/CIRCGEN.121.003559

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  5 in total

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

Authors:  Morten Alstrup; Ida Vogel; Puk Sandager; Jenny Blechingberg; Naja Becher; Elsebet Østergaard
Journal:  JIMD Rep       Date:  2021-03-05

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

Authors:  Gregory Webster; Meredith Reynolds; Nicoleta C Arva; Lisa M Dellefave-Castillo; Hilary S McElligott; Amber Kofman; Aleksandra Laboski; Defne Magnetta; Alfred L George; Elizabeth M McNally; Megan J Puckelwartz
Journal:  Am J Med Genet A       Date:  2021-05-18       Impact factor: 2.578

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

Authors:  René G Feichtinger; Monika Oláhová; Yoshihito Kishita; Caterina Garone; Laura S Kremer; Mikako Yagi; Takeshi Uchiumi; Alexis A Jourdain; Kyle Thompson; Aaron R D'Souza; Robert Kopajtich; Charlotte L Alston; Johannes Koch; Wolfgang Sperl; Elisa Mastantuono; Tim M Strom; Saskia B Wortmann; Thomas Meitinger; Germaine Pierre; Patrick F Chinnery; Zofia M Chrzanowska-Lightowlers; Robert N Lightowlers; Salvatore DiMauro; Sarah E Calvo; Vamsi K Mootha; Maurizio Moggio; Monica Sciacco; Giacomo P Comi; Dario Ronchi; Kei Murayama; Akira Ohtake; Pedro Rebelo-Guiomar; Masakazu Kohda; Dongchon Kang; Johannes A Mayr; Robert W Taylor; Yasushi Okazaki; Michal Minczuk; Holger Prokisch
Journal:  Am J Hum Genet       Date:  2017-09-21       Impact factor: 11.025

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

Authors:  Jie Wang; Huan Li; Min Sun; Ying Yang; Qianli Yang; Bailing Liu; Fang Liu; Wen Hu; Yanmin Zhang
Journal:  Front Pediatr       Date:  2020-12-02       Impact factor: 3.418

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

Authors:  Silvia Marchet; Andrea Legati; Alessia Nasca; Ivano Di Meo; Manuela Spagnolo; Nadia Zanetti; Eleonora Lamantea; Alessia Catania; Costanza Lamperti; Daniele Ghezzi
Journal:  Hum Mutat       Date:  2020-07-22       Impact factor: 4.878
  5 in total

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