Human genes for mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome [DOID:0070329]
A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
Synonyms: mitochondrial DNA depletion syndrome, DOID:0070329, mitochondrial DNA depletion disease, mitochondrial DNA depletion disorder, mitochondrial DNA depletion syndromes ...