Term Name: | mitochondrial DNA depletion syndrome 2 |
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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 ) |