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Paper Details

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis
57
2016
1 bp deletions, 1 bp duplication, 3 bp insertion, CoA, Hypertrophic cardiomyopathy, PATIENTS, SUCLA2, SUCLA2 and SUCLG1 deficiency, SUCLA2 gene, SUCLA2 mutations, SUCLG1, SUCLG1 mutations, Succinate-CoA, Succinate-CoA ligase, Succinate-CoA ligase deficiency, basal ganglia involvement, combined deficiency of complexes I and IV, deficiency of succinate-CoA ligase, encephalomyopathic mtDNA depletion syndrome, epilepsy, hepatopathy, hypertrophic cardiomyopathy, liver involvement, methylmalonic, methylmalonic acid, methylmalonic aciduria, patients, succinate, succinate-CoA, succinate-CoA ligase, succinate-CoA ligase deficiency
Author NameAffiliation
Irenaeus F M de CooErasmus Medical Centre
Enrico BertiniBambino Gesu Children's Hospital, IRCCS
Enrico BertiniBambino Gesu Children's Hospital, IRCCS
Robert McFarlandNewcastle University
Robert W TaylorNewcastle University
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