| 1 | FLAMM, MDDS4, SUCLA2, SUCLG1
|
| Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
|
| Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.
|
| J Inherit Metab Dis Inherit Metab Dis. 2015 Oct 16. [Epub ahead of print]
2015
|
| 2 | MDDS4, SUCLA2
|
| SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
|
| Maas RR, Marina AD, de Brouwer AP, Wevers RA, Rodenburg RJ, Wortmann SB.
|
| JIMD Rep IMD Rep. 2015 Sep 27. [Epub ahead of print]
2015
|
| 3 | MDDS4, SUCLA2
|
| Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
|
| Matilainen S, Isohanni P, Euro L, Lönnqvist T, Pihko H, Kivelä T, Knuutila S, Suomalainen A.
|
| Eur J Hum Genet 23(3):325-30. doi: 10.1038/ejhg.2014.128. Epub 2014 Jul 2. Review.
2015
|
| 4 | MDDS4, SUCLA2
|
| A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
|
| Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D.
|
| Mol Genet Metab 107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7.
2012
|
| 5 | SUCLA2, MDDS4
|
| Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
|
| Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M.
|
| Brain 130(Pt 3):853-61. Epub 2007 Feb 7. 2007
|
| 6 | SUCLA2, MDDS4
|
| SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
|
| Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.
|
| Brain 130(Pt 3):862-74. Epub 2007 Feb 14. 2007
|
| 7 | SUCLA2, MDDS4
|
| Mutations in SUCLA2: a tandem ride back to the Krebs cycle.
|
| Chinnery PF.
|
| Brain 130(Pt 3):606-9. Review. No abstract available. 2007
|
| 8 | MDDS4, SUCLA2
|
| Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion.
|
| Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A.
|
| Am J Hum Genet 76(6):1081-6. Epub 2005 Apr 22. 2005
|