| Main clinical features
|
mitochondrial encephalomyopathy with leukoencephalopathy
rapidly progressive psychomotor regression after a 6- to 11-month disease-free interval with lack of speech development, followed by spastic quadriparesis and partial loss of postural control with dystonia
brain magnetic resonance imaging showed severe leukodystrophic changes with sparing of the peripheral U-fibers and basal ganglia (Ghezzi 2009)
mitochondrial respiratory chain (MRC) complexes in muscle and fibroblasts showed a 20–30p100 residual activity of SDH and SCoQR, whereas the other MRC activities were normal |