Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation-Reference-Cited by-同舟云学术

Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation

Published:2021-08-30 Issue:9 Volume:9 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Vafaee‐Shahi Mohammad¹^ORCID,Ghasemi Saeide²,Beiraghi Toosi Mehran³,Ashrafi Mahmoud Reza⁴,Badv Reza Shervin⁴,Tavasoli Ali Reza⁴,Tahernia Leila⁵

Affiliation:

1. Pediatric Neurology Department Pediatric Growth and Development Research Center Iran University of Medical Sciences Tehran Iran

2. Rasool Akram Hospital Iran University of Medical Sciences Tehran Iran

3. Pediatric Neurology Department Pediatric Ward Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran

4. Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran

5. Pediatric Intensive care department, Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.4748

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5. Pathological Mutations of the Human NDUFS4 Gene of the 18-kDa (AQDQ) Subunit of Complex I Affect the Expression of the Protein and the Assembly and Function of the Complex