mitochondrial DNA depletion syndrome 2 (DOID:0080120)
Alliance: disease page
Synonyms: TK2-related mitochondrial DNA depletion syndrome, myopathic form
Alt IDs: OMIM:609560, MESH:C563698, ORDO:254875
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.