isolated mitochondrial myopathy

A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.

Signs and symptoms

• Decreased activity of mitochondrial complex III
• Decreased activity of mitochondrial complex II
• Decreased activity of mitochondrial complex IV
• Elevated circulating creatine kinase activity
• Facial palsy
• Ragged-red muscle fibers
• Short stature
• Increased circulating lactate concentration
• Proximal lower limb muscle weakness
• Exercise intolerance

Also known as: Autosomal dominant mitochondrial myopathy with exercise intolerance