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Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation Publisher



Vafaeeshahi M1 ; Ghasemi S2 ; Beiraghi Toosi M3 ; Ashrafi MR4 ; Badv RS4 ; Tavasoli AR4 ; Tahernia L5
Authors

Source: Clinical Case Reports Published:2021


Abstract

We report a patient with complex clinical presentation including multiple neurological symptoms and eye involvement. Upon genetic investigation, the patient was found to carry a novel homozygous mutation in the NDUFS4 gene, thus adding to the heterogeneity of Leigh syndrome clinical presentation. © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.