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Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures

3 Mar 2025

Abstract excerpt

OBJECTIVE: gene cause thymidine kinase 2 deficiency (TK2d) presenting with infantile, childhood, or adult-onset myopathy. CNS involvement is reported in only 25% of the infantile form. Compassionate use of deoxynucleoside substrate enhancement therapy (dC/dT) has been demonstrated safe and effective in TK2d myopathy, but no data are available on the potential efficacy on the human brain disease. METHODS: Here, we...

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PMID: 40030095
DOI: 10.1212/wnl.0000000000213373

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