Associated Papers
Autosomal dominant myopathy caused by a novel ISCU variant.
Rusecka JM et al.
Frontiers in Genetics, 2025
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Montealegre S et al.
Neurology. Genetics, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis.
Rawcliffe DFR et al.
Molecular Genetics & Genomic Medicine, 2018
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
Legati A et al.
Journal of Medical Genetics, 2017
Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.
Kollberg G et al.
Neuromuscular Disorders : Nmd, 2011
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
Kollberg G et al.
Brain : a Journal of Neurology, 2009
Select a paper to view details