A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.

Andrea LegatiAurelio ReyesCamilla Ceccatelli BertiOliver StehlingSilvia MarchetCostanza LampertiAlberto FerrariAlan J RobinsonUlrich MühlenhoffRoland LillMassimo ZevianiPaola GoffriniDaniele Ghezzi

Published in: Journal of medical genetics (2017)

We describe the first heterozygous dominant mutation in ISCU which results in a phenotype reminiscent of the recessive disease previously reported.

Keyphrases

muscular dystrophy
oxidative stress
early onset
late onset
intellectual disability