combined oxidative phosphorylation deficiency 49

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2.

Signs and symptoms

Progressive muscle weakness
Elevated circulating creatine kinase activity
Ragged-red muscle fibers
Gait disturbance
Decreased activity of mitochondrial complex III
Difficulty climbing stairs
Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex II
Cytochrome C oxidase-negative muscle fibers

Also known as: COXPD49