" /> Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) - CISMeF





Preferred Label : Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type);

NCIt synonyms : MTDPS2;

NCIt definition : An autosomal recessive subtype of mitochondrial depletion syndrome caused by mutation(s) in the TK2 gene, encoding thymidine kinase 2, mitochondrial. It is characterized by muscle weakness associated with mtDNA depletion in skeletal muscle.;

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26/07/2025


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