Literature DB >> 15505378

Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.

C P Venditti1, M C Harris, D Huff, I Peterside, D Munson, H S Weber, J Rome, E M Kaye, S Shanske, S Sacconi, S Tay, S DiMauro, G T Berry.   

Abstract

Biventricular hypertrophy was noted at 24 weeks' gestation in a fetus with isolated cytochrome-c oxidase (COX) deficiency. Shock, caused by hypertrophic cardiomyopathy and severe pulmonary hypertension, led to the patient's death on day 6. His phenotype defines a new lethal variant of COX deficiency characterized by prenatal-onset cardiopulmonary pathophysiology.

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Year:  2004        PMID： 15505378     DOI： 10.1023/B:BOLI.0000045711.89888.5e

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  17 in total

1.  Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.

Authors:  C M Sue; C Karadimas; N Checcarelli; K Tanji; L C Papadopoulou; F Pallotti; F L Guo; S Shanske; M Hirano; D C De Vivo; R Van Coster; P Kaplan; E Bonilla; S DiMauro
Journal:  Ann Neurol       Date:  2000-05       Impact factor: 10.422

Review 2.  Mitochondrial respiratory-chain diseases.

Authors:  Salvatore DiMauro; Eric A Schon
Journal:  N Engl J Med       Date:  2003-06-26       Impact factor: 91.245

3.  Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

Authors:  Hana Antonicka; Andre Mattman; Christopher G Carlson; D Moira Glerum; Kristen C Hoffbuhr; Scot C Leary; Nancy G Kennaway; Eric A Shoubridge
Journal:  Am J Hum Genet       Date:  2002-12-09       Impact factor: 11.025

4.  Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

Authors:  M Jaksch; I Ogilvie; J Yao; G Kortenhaus; H G Bresser; K D Gerbitz; E A Shoubridge
Journal:  Hum Mol Genet       Date:  2000-03-22       Impact factor: 6.150

5.  Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

Authors:  I Valnot; S Osmond; N Gigarel; B Mehaye; J Amiel; V Cormier-Daire; A Munnich; J P Bonnefont; P Rustin; A Rötig
Journal:  Am J Hum Genet       Date:  2000-09-28       Impact factor: 11.025

6.  A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

Authors:  I Valnot; J C von Kleist-Retzow; A Barrientos; M Gorbatyuk; J W Taanman; B Mehaye; P Rustin; A Tzagoloff; A Munnich; A Rötig
Journal:  Hum Mol Genet       Date:  2000-05-01       Impact factor: 6.150

7.  Antenatal manifestations of mitochondrial respiratory chain deficiency.

Authors:  Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Géraldine Viot; Alice Goldenberg; Becky Mardach; Jeanne Amiel; Philippe Saada; Yves Dumez; Francis Brunelle; Jean-Marie Saudubray; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale De Lonlay
Journal:  J Pediatr       Date:  2003-08       Impact factor: 4.406

8.  Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.

Authors:  S DiMauro; J R Mendell; Z Sahenk; D Bachman; A Scarpa; R M Scofield; C Reiner
Journal:  Neurology       Date:  1980-08       Impact factor: 9.910

9.  Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.

Authors:  S DiMauro; J F Nicholson; A P Hays; A B Eastwood; A Papadimitriou; R Koenigsberger; D C DeVivo
Journal:  Ann Neurol       Date:  1983-08       Impact factor: 10.422

10.  Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Authors:  Vamsi K Mootha; Pierre Lepage; Kathleen Miller; Jakob Bunkenborg; Michael Reich; Majbrit Hjerrild; Terrye Delmonte; Amelie Villeneuve; Robert Sladek; Fenghao Xu; Grant A Mitchell; Charles Morin; Matthias Mann; Thomas J Hudson; Brian Robinson; John D Rioux; Eric S Lander
Journal:  Proc Natl Acad Sci U S A       Date:  2003-01-14       Impact factor: 11.205
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  8 in total

Review 1.  Mitochondrial dysfunction in alveolar and white matter developmental failure in premature infants.

Authors:  Vadim S Ten
Journal:  Pediatr Res       Date:  2016-11-03       Impact factor: 3.756

2.  OWL-NETS: Transforming OWL Representations for Improved Network Inference.

Authors:  Tiffany J Callahan; William A Baumgartner; Michael Bada; Adrianne L Stefanski; Ignacio Tripodi; Elizabeth K White; Lawrence E Hunter
Journal:  Pac Symp Biocomput       Date:  2018

3.  TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Authors:  Alessandra Torraco; Daniela Verrigni; Teresa Rizza; Maria Chiara Meschini; Martha Elisa Vazquez-Memije; Diego Martinelli; Marzia Bianchi; Fiorella Piemonte; Carlo Dionisi-Vici; Filippo Maria Santorelli; Enrico Bertini; Rosalba Carrozzo
Journal:  Neurogenetics       Date:  2012-09-18       Impact factor: 2.660

Review 4.  Reactive oxygen species in pulmonary vascular remodeling.

Authors:  Saurabh Aggarwal; Christine M Gross; Shruti Sharma; Jeffrey R Fineman; Stephen M Black
Journal:  Compr Physiol       Date:  2013-07       Impact factor: 9.090

5.  Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G).

Authors:  D M Sproule; J Dyme; J Coku; D de Vinck; E Rosenzweig; W K Chung; D C De Vivo
Journal:  J Inherit Metab Dis       Date:  2008-01-07       Impact factor: 4.982

Review 6.  Pulmonary hypertension as a manifestation of mitochondrial disease: A case report and review of the literature.

Authors:  Shan Xu; Xiaoling Xu; Jisong Zhang; Kejing Ying; Yuquan Shao; Ruifeng Zhang
Journal:  Medicine (Baltimore)       Date:  2017-11       Impact factor: 1.889

7.  Primary pulmonary hypertension as a manifestation of adult multi-system mitochondrial disorder.

Authors:  Josef Finsterer
Journal:  Yonsei Med J       Date:  2009-04-30       Impact factor: 2.759

8.  Mitochondrial Haplogroups and Risk of Pulmonary Arterial Hypertension.

Authors:  Samar Farha; Bo Hu; Suzy Comhair; Joe Zein; Raed Dweik; Serpil C Erzurum; Micheala A Aldred
Journal:  PLoS One       Date:  2016-05-25       Impact factor: 3.240
  8 in total

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