Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)

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.

Source: NCI Thesaurus (C185236).