Conditions / Genetic
mitochondrial complex III deficiency nuclear type 2
info · Genetic
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 autosom
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.
Signs and symptoms
- Decreased activity of mitochondrial complex III
- Gait ataxia
- Dysarthria
- Peripheral axonal degeneration
- Olivopontocerebellar atrophy
- Dystonia
- Apraxia
- Neurodegeneration
- Depression
- Nystagmus
Also known as: MC3DN2