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1.	Carrozzo, Rosalba, et al. (author) Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 2016 In: Journal of inherited metabolic disease. - : Wiley. - 1573-2665 .- 0141-8955. ; 39:2, s. 243-252 Journal article (peer-reviewed)abstract The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients.
2.	Ostergaard, Elsebet, et al. (author) A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. 2010 In: European journal of pediatrics. - : Springer Science and Business Media LLC. - 1432-1076 .- 0340-6199. ; 169:2, s. 201-5 Journal article (peer-reviewed)abstract Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis. We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Holme, Elisabeth, 19 ... (2); Batbayli, Mustafa (2); Ostergaard, Elsebet (2); Cordelli, Duccio M. (1); Tulinius, Mar, 1953 (1); Darin, Niklas, 1964 (1); show more...; Bertini, Enrico (1); Ravn, Kirstine (1); Taylor, Robert W (1); Kollberg, Gittan, 19 ... (1); Naess, Karin (1); Uusimaa, Johanna (1); Hjalmarson, Ola, 194 ... (1); Carrozzo, Rosalba (1); Verrigni, Daniela (1); Rasmussen, Magnhild (1); de Coo, Rene (1); Amartino, Hernan (1); Bianchi, Marzia (1); Buhas, Daniela (1); Mesli, Samir (1); Born, Alfred Peter (1); Woldseth, Berit (1); Prontera, Paolo (1); Joensen, Fróði (1); Santorelli, Filippo ... (1); Duno, Morten (1); Jouvencel, Philippe (1); Burlina, Alberto (1); Stangoni, Gabriela (1); Redonnet-Vernhet, Is ... (1); Wibrand, Flemming (1); Dionisi-Vici, Carlo (1); Vieira, Paivi (1); Osorio, Andrés Nasci ... (1); McFarland, Robert (1); Christensen, Ernst (1); Schwartz, Marianne (1); show less...

University: University of Gothenburg (2); Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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