Conditions / Genetic
nuclear type mitochondrial complex I deficiency 23
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22.
Signs and symptoms
- Skeletal muscle atrophy
- Scoliosis
- Delayed ability to walk
- Dystonia
- Hypotonia
- Increased circulating lactate concentration
- Increased CSF lactate
- Motor delay
- Decreased activity of mitochondrial complex I
- Hypertrichosis
Also known as: MC1DN23