Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.

Abstract excerpt

Myopathy with exercise intolerance and deficiency of iron-sulphur cluster proteins is caused by an intronic IVS5+382 G>C mutation in ISCU, the gene encoding the iron-sulphur cluster assembly protein (IscU). The mutation causes alternative splicing resulting in a truncated protein and severely reduced levels of IscU protein in muscle tissue. Disease manifestations include muscle fatigability, dyspnoea, cardiac...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aged
• Share to Biopsy
• Share to Introns