Homoplasmic m.591C >T variant in the mitochondrial MT-TF exhibits phenotypic heterogeneity: a family report
Abstract Background Mutations in mitochondrial transfer RNA (mt-tRNA) genes, a common source of mitochondrial DNA (mtDNA) mutations, are associated to diverse human diseases. These mutations are often heteroplasmic, leading to varied clinical symptoms. This study investigates the clinical and molecu...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-05-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-025-00722-7 |
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