Article
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Journal of inherited metabolic disease - 1 Mar 2016
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
Abstract excerpt
BACKGROUND: 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. PATIENTS AND RESULTS: Of the 71 patients, 50 had SUCLA2 mutations and...
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