Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy-Reference-Cited by-同舟云学术

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

Published:2018-11-09 Issue:1 Volume:6 Page:154-160
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Otero Maria G.¹,Tiongson Emmanuelle²,Diaz Frank³,Haude Katrina⁴,Panzer Karin⁵,Collier Ashley⁶,Kim Jaemin¹,Adams David⁷⁸,Tifft Cynthia J.⁷⁸,Cui Hong⁴,Millian Zamora Francisca⁴,Au Margaret G.⁹,Graham John M.⁹,Buckley David J.¹⁰,Lewis Richard³,Toro Camilo⁷⁸,Bai Renkui⁴,Turner Lesley¹¹,Mathews Katherine D.⁶¹²,Gahl William⁷⁸,Pierson Tyler Mark¹³⁹

Affiliation:

1. Board of Governors Regenerative Medicine Institute; Cedars-Sinai Medical Center; Los Angeles California

2. Division of Neurology; Children's Hospital of Los Angeles; Los Angeles California

3. Department of Neurology; Cedars-Sinai Medical Center; Los Angeles California

4. GeneDx; Gaithersburg Maryland

5. Department of Pediatrics; University of Iowa Stead Family Children's Hospital; Iowa City Iowa

6. Provincial Medical Genetics Program; Eastern Health; St. John's Newfoundland and Labrador Canada

7. NIH Undiagnosed Diseases Program; NIH Office of Rare Diseases Research and NHGRI; Bethesda Maryland

8. Office of the Clinical Director; NHGRI, NIH; Bethesda Maryland

9. Department of Pediatrics; Cedars-Sinai Medical Center; Los Angeles California

10. Department of Pediatrics; Janeway Health Centre; St. John's Newfoundland and Labrador Canada

11. Faculty of Medicine; Memorial University of Newfoundland; St. John's Newfoundland Canada

12. Department of Neurology; University of Iowa Stead Family Children's Hospital; Iowa City Iowa

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/acn3.661/fullpdf

Reference21 articles.

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2. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia;Szklarczyk;Hum Mol Genet,2013

3. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria;Keightley;Nat Genet,1996

4. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase;Massa;Am J Hum Genet,2008

5. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency;Melchionda;Am J Hum Genet,2014

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