Conditions / Genetic
nuclear type mitochondrial complex I deficiency 17
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1.
Signs and symptoms
- Dystonia
- Elevated brain choline level by MRS
- Rigidity
- Elevated brain lactate level by MRS
- Basal ganglia necrosis
- Muscle weakness
- Generalized dystonia
- Pes planus
- Lactic acidosis
- Scoliosis
Also known as: MC1DN17