mitochondrial complex III deficiency nuclear type 2
Go to external page http://purl.obolibrary.org/obo/DOID_0060351
A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. [ url:https://www.ncbi.nlm.nih.gov/pubmed/21278747 url:http://www.omim.org/entry/615157 http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007645 ]
Synonyms: MC3DN2