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Metadata
ID	DOID:0080120
Name	mitochondrial DNA depletion syndrome 2
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. https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form, https://www.ncbi.nlm.nih.gov/pubmed/2881246, https://www.ncbi.nlm.nih.gov/pubmed/29735374, https://www.omim.org/entry/609560
Xrefs	MESH:C563698 OMIM:609560 ORDO:254875
Subsets	DO_rare_slim
Synonyms	TK2-related mitochondrial DNA depletion syndrome, myopathic form [EXACT]
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease