Associated Papers
Impact of missense mutations on the structure-function relationship of human succinyl-CoA synthetase using in silico analysis.
Elabed S et al.
Mitochondrion, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit.
Lancaster MS et al.
International Journal of Molecular Sciences, 2023
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Huang X et al.
Molecular Genetics and Metabolism, 2017
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.
Garone C et al.
Journal of Child Neurology, 2017
Novel mutation in SUCLA2 identified on sequencing analysis.
Güngör O et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R et al.
Journal of Inherited Metabolic Disease, 2016
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
Maas RR et al.
Jimd Reports, 2016
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Matilainen S et al.
European Journal of Human Genetics : Ejhg, 2015
A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.
Nogueira C et al.
Journal of Child Neurology, 2015
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
Jaberi E et al.
Journal of Human Genetics, 2013
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