Conditions / Genetic
nuclear type mitochondrial complex I deficiency 8
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2.
Signs and symptoms
- Kyphoscoliosis
- Axial dystonia
- Stiff neck
- Increased CSF lactate
- Decreased activity of mitochondrial complex I
- Optic disc pallor
- Encephalopathy
- Dysphagia
- Dystonia
- Increased circulating lactate concentration
Also known as: MC1DN8