NDUFB11 and lethal infantile mitochondrial myopathy: NDUFB11, recently reported as causative gene for microphthalmia with linear skin defects syndrome (MIM 300952) and encoding a complex I component, was mutated in Pt067, a boy born to non-consanguineous parents under conditions of intrauterine growth restriction; this patient presented with heart failure, respiratory failure, complex I deficiency, and lethal infantile mitochondrial disorder (LIMD).