Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency-Reference-Cited by-同舟云学术

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

Published:2004-11 Issue:6 Volume:27 Page:735-739
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Venditti C. P.¹,Harris M. C.²,Huff D.³,Peterside I.²,Munson D.²,Weber H. S.⁴,Rome J.⁵,Kaye E. M.¹,Shanske S.⁶,Sacconi S.⁶,Tay S.⁶,DiMauro S.⁶,Berry G. T.¹

Affiliation:

1. Division of Human Genetics and Molecular Biology; The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine; Philadelphia, Pennsylvania USA

2. Division of Neonatology; The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine; Philadelphia, Pennsylvania USA

3. Department of Pathology; The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine; Philadelphia, Pennsylvania USA

4. ; Department of Cardiology; The Pennsylvania State University Children's Hospital; Hershey, Pennsylvania USA

5. Division of Cardiology; The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine; Philadelphia, Pennsylvania USA

6. ; Columbia University College of Physicians and Surgeons; New York USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000045711.89888.5e/fullpdf

Reference18 articles.

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2. Mitochondrial respiratory-chain diseases;Di Mauro;N Engl J Med,2003

3. Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency;Di Mauro;Neurology,1980

4. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency;DiMauro;Ann Neurol,1983

5. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency;Jaksch;Hum Mol Genet,2000

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2. Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive;Human Mutation;2017-03-23

3. Mitochondrial dysfunction in alveolar and white matter developmental failure in premature infants;Pediatric Research;2016-11-03

4. Mitochondrial Haplogroups and Risk of Pulmonary Arterial Hypertension;PLOS ONE;2016-05-25

5. Case report Adult, isolated respiratory chain complex IV deficiency with minimal manifestations;Folia Neuropathologica;2015