Conditions / Genetic
nuclear type mitochondrial complex I deficiency 21
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12.
Signs and symptoms
- Strabismus
- Ragged-red muscle fibers
- Myopathy
- Generalized non-motor (absence) seizure
- Global developmental delay
- Ataxia
- Increased CSF lactate
- Delayed gross motor development
- Decreased activity of mitochondrial complex I
- Nystagmus
Also known as: MC1DN21