一名8岁女孩的双侧水平凝视麻痹：一例罕见的基因突变病例。
Bilateral horizontal gaze palsy in an 8-year-old girl: A rare case with gene mutation.
作者信息
Vafaee-Shahi Mohammad, Ghasemi Saeide, Beiraghi Toosi Mehran, Ashrafi Mahmoud Reza, Badv Reza Shervin, Tavasoli Ali Reza, Tahernia Leila
机构信息
Pediatric Neurology Department Pediatric Growth and Development Research Center Iran University of Medical Sciences Tehran Iran.
Rasool Akram Hospital Iran University of Medical Sciences Tehran Iran.
出版信息
Clin Case Rep. 2021 Aug 30;9(9):e04748. doi: 10.1002/ccr3.4748. eCollection 2021 Sep.
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 gene, thus adding to the heterogeneity of Leigh syndrome clinical presentation.
我们报告了一名临床表现复杂的患者，包括多种神经症状和眼部受累。经基因检测，发现该患者在该基因中携带一种新的纯合突变，这进一步增加了 Leigh 综合征临床表现的异质性。
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