Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients-Reference-Cited by-同舟云学术

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Published:2015-10-16 Issue:2 Volume:39 Page:243-252
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Carrozzo Rosalba,Verrigni Daniela,Rasmussen Magnhild,de Coo Rene,Amartino Hernan,Bianchi Marzia,Buhas Daniela,Mesli Samir,Naess Karin,Born Alfred Peter,Woldseth Berit,Prontera Paolo,Batbayli Mustafa,Ravn Kirstine,Joensen Fróði,Cordelli Duccio M.,Santorelli Filippo Maria,Tulinius Mar,Darin Niklas,Duno Morten,Jouvencel Philippe,Burlina Alberto,Stangoni Gabriela,Bertini Enrico,Redonnet-Vernhet Isabelle,Wibrand Flemming,Dionisi-Vici Carlo,Uusimaa Johanna,Vieira Paivi,Osorio Andrés Nascimento,McFarland Robert,Taylor Robert W.,Holme Elisabeth,Ostergaard Elsebet

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-015-9894-9.pdf

Reference32 articles.

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3. Bugiani M, Invernizzi F, Alberio S et al (2004) Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659:136–147

4. Carrozzo R, Dionisi-Vici C, Steuerwald U et al (2007) SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130:862–874

5. Elpeleg O, Miller C, Hershkovitz E et al (2005) Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 76:1081–1086

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