| Gene | *MT-TK* (mitochondrial tRNA^Lys^ gene) |
| Location | Mitochondrial genome (mtDNA) |
| Most common mutation | A8344G point mutation (>80% of cases) |
| Other mutations | T8356C, G8363A, T8356G, and others[^4] |
| Hallmark feature | Myoclonic seizures (brief, shock-like jerks) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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