Hereditary myopathy with lactic acidosis (HML), also known as myopathy with succinate dehydrogenase and aconitase deficiency, is characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. It has been reported that mutations in the gene encoding the iron-sulphur cluster scaffold protein (ISCU) cause this disease. ISCU is essential for the activity of mitochondrial iron-sulphur proteins such as succinate dehydrogenase and aconitase.
Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Muhlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D
タイトル
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
