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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C73 Mitochondrial myopathies
H02866 Hereditary myopathy with lactic acidosis
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
Title
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
