SUCLA2

Publications

Carrozzo R et al. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis. 2016;39(2):243-52. PMID: 26475597.

Carrozzo R et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007;130(Pt 3):862-74. PMID: 17301081.

El-Hattab AW et al. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyo­pathic Form with Methylmalonic Aciduria. 2009 and updated 2017. In: Adam MP et al. editors. GeneReviews® Seattle (WA): University of Washington, Seattle. PMID: 20301762.

Elpeleg O et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet. 2005;76(6):1081-6. PMID: 15877282.

Matilainen S et al. Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. Eur J Hum Genet. 2015;23(3):325-30. PMID: 24986829.

Morava E et al. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion. 2009;9(6):438-42. PMID: 19666145.

Ostergaard E et al. Mitochondrial encephalomyopathy with elevated methyl­malonic acid is caused by SUCLA2 mutations. Brain. 2007;130(Pt 3):853-61. PMID: 17287286