| Metadata | |
|---|---|
| ID | DOID:0051029 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051029 Copy |
| Name | mitochondrial DNA depletion syndrome-21 |
| Definition | A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/39230499/ |
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