Term Name:	mitochondrial DNA depletion syndrome 2
Synonyms:	TK2-related mitochondrial DNA depletion syndrome, myopathic form
Definition:	A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21.
Ontology:	Human Disease [DOID:0080120]   ( DOID:0080120 )