mitochondrial DNA depletion syndrome-21

Term ID

DOID:0051029

Synonyms

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/

References

• MIM:621071

Ontology

Human Disease   ( DOID:0051029 )