Conditions / Genetic
nuclear type mitochondrial complex I deficiency 29
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1.
Signs and symptoms
- Increased muscle fatiguability
- Mitochondrial swelling
- Exercise intolerance
- Hyperalaninemia
- Increased circulating lactate concentration
- Decreased activity of mitochondrial complex I
- Exercise-induced myalgia
- Elevated lactate:pyruvate ratio
- Proximal muscle weakness
- Stage 5 chronic kidney disease
Also known as: MC1DN29