Conditions / Genetic
mitochondrial DNA depletion syndrome-21
info · Genetic
A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation
A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Myopathy
- Chronic fatigue
- Autism
- Proximal muscle weakness
- Bilateral ptosis
- Kyphoscoliosis
- Centrally nucleated skeletal muscle fibers
- Ragged-red muscle fibers
- Decreased activity of mitochondrial complex III