mitochondrial complex III deficiency nuclear type 2

Term ID

DOID:0060351

Synonyms

• MC3DN2

Definition

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. (2)

References

• MIM:615157

Ontology

Human Disease   ( DOID:0060351 )