Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy Kollberg G et al. - Myopathy with deficiency of succinate dehydrogenase and aconitase is a recessively inherited disorder characterized by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, severe metabolic acidosis and rhabdomyolysis may occur. [more...]
