Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) - CISMeF
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)NCIt concept
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.;