Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation
oleh: Mohammad Vafaee‐Shahi, Saeide Ghasemi, Mehran Beiraghi Toosi, Mahmoud Reza Ashrafi, Reza Shervin Badv, Ali Reza Tavasoli, Leila Tahernia
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2021-09-01 |
Deskripsi
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.