Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation

Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation

BackgroundThe m.3243A>G mutation in the MT-TL1 gene is the most common mtDNA mutation. The mutation can lead to a spectrum of conditions, including diabetes, hearing loss, heart and muscle involvement, encephalopathy and epilepsy, gastrointestinal problems, and vision impairment, often occurr...

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Bibliographic Details
Main Authors: Yujing Li, Yihong Ding, Enzhong Jin, Hong Yin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Pediatrics
Subjects:
m.3243A>G mutation
iris defect
infant
ocular screening
MT-TL1 gene
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1573886/full
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