| 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://www.ncbi.nlm.nih.gov/pubmed/29735374, https://www.ncbi.nlm.nih.gov/pubmed/2881246, https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
TK2-related mitochondrial DNA depletion syndrome, myopathic form [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |