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

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.

Detalles Bibliográficos
Autores principales: Vafaee‐Shahi, Mohammad, Ghasemi, Saeide, Beiraghi Toosi, Mehran, Ashrafi, Mahmoud Reza, Badv, Reza Shervin, Tavasoli, Ali Reza, Tahernia, Leila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405526/
https://www.ncbi.nlm.nih.gov/pubmed/34484776
http://dx.doi.org/10.1002/ccr3.4748

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405526/
https://www.ncbi.nlm.nih.gov/pubmed/34484776
http://dx.doi.org/10.1002/ccr3.4748

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