Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I-Reference-Cited by-同舟云学术

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Published:2020-09-24 Issue:11 Volume:12 Page:
ISSN:1757-4676
Container-title:EMBO Molecular Medicine
language:en
Short-container-title:EMBO Mol Med

Author:

Alahmad Ahmad¹²³,Nasca Alessia⁴^ORCID,Heidler Juliana⁵,Thompson Kyle¹²,Oláhová Monika¹⁶,Legati Andrea⁴,Lamantea Eleonora⁴,Meisterknecht Jana⁵,Spagnolo Manuela⁴,He Langping¹⁷,Alameer Seham⁸⁹¹⁰,Hakami Fahad¹¹,Almehdar Abeer¹²,Ardissone Anna¹³,Alston Charlotte L¹²⁷,McFarland Robert¹²⁷,Wittig Ilka⁵¹⁴,Ghezzi Daniele⁴¹⁵^ORCID,Taylor Robert W¹²⁷^ORCID

Affiliation:

1. Wellcome Centre for Mitochondrial Research Newcastle University Newcastle upon Tyne UK

2. Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

3. Kuwait Medical Genetics Centre Al‐Sabah Medical Area Kuwait

4. Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

5. SFB815 Core Unit Functional Proteomics Medical School Goethe‐Universität Frankfurt am Main Germany

6. Faculty of Medical Sciences Biosciences Institute Newcastle University Newcastle upon Tyne UK

7. NHS Highly Specialised Service for Rare Mitochondrial Disorders Royal Victoria Infirmary Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

8. Pediatric Department Ministry of National Guard Health Affairs Jeddah Saudi Arabia

9. King Abdullah International Medical Research Center Jeddah Saudi Arabia

10. King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia

11. Section of Molecular Medicine King Abdulaziz Medical City‐WR King Saud bin Abdulaziz University for Health Sciences Jeddah Saudi Arabia

12. Department of Medical Imaging King Saud bin Abdulaziz University for Health Sciences King Abdulaziz Medical City‐WR National Guard Health Affairs Jeddah Saudi Arabia

13. Child Neurology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

14. German Center for Cardiovascular Research (DZHK) Partner site RheinMain Frankfurt Germany

15. Department of Pathophysiology and Transplantation University of Milan Milan Italy

Funder

Fondazione Pierfranco e Luisa Mariani

Publisher

EMBO

Subject

Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.202012619

Reference47 articles.

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4. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

5. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

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