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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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1573886/full |
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