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Late-onset TK2 deficiency in adults: Long-term clinical outcomes of deoxynucleoside therapy
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DOI：10.1016/j.mito.2026.102138.png)
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Abstract
En 中文
• Deoxynucleoside therapy led to sustained functional and respiratory improvement in adults with late-onset TK2 deficiency. • Clinically meaningful gains in ambulation, motor function, fatigue, and nutritional status were observed over long-term follow-up (up to 36 months). • Early initiation of therapy was associated with greater functional benefit, although stabilization and partial improvement were also achievable in advanced disease. • Respiratory function stabilized or improved in all treated patients, with discontinuation of ventilatory support in selected cases. • Treatment was generally well tolerated in adults, with manageable and reversible adverse events under individualized dose escalation.
Keywords:
TK2 deficiency
deoxynucleoside therapy
adult patients
respiratory function
clinical outcomes
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