Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy

• Published in: Brain
• Main Authors: Kollberg, Gittan, Tulinius, Már, Melberg, Atle, Darin, Niklas, Andersen, Oluf, Holmgren, Daniel, Oldfors, Anders, Holme, Elisabeth
• Format: Text
• Language: English
• Published: Oxford University Press 2009
• Subjects: Original Articles; Two Brothers; Northern Sweden
• Online Access: http://brain.oxfordjournals.org/cgi/content/short/132/8/2170; https://doi.org/10.1093/brain/awp152

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...