TK2D Case 1: Severe Early-Onset Presentation in a Four-Year-Old

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A four-year-old with regression, ptosis, and feeding problems illustrates the textbook features of severe early-onset TK2D and the laboratory and genetic findings that confirm the diagnosis.

Source: NeurologyLive Published 19 Oct 2026 Imported 19 Oct 2026 Relevancy: Not reviewed

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