Term Name:	mitochondrial DNA depletion syndrome-21
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.
Ontology:	Human Disease [DOID:0051029]   ( DOID:0051029 )