Prevalence (%) of clinical parameters based on data from 3 references describing 6 individuals Add new symptom/sign to this disease
List of symptoms
List of references: Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Elsebet Ostergaard, Ernst Christensen, Elisabeth Kristensen, Bodil Mogensen, Morten Duno, Eric A Shoubridge, Flemming Wibrand, American journal of human genetics - Aug 2007 A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Elsebet Ostergaard, Marianne Schwartz, Mustafa Batbayli, Ernst Christensen, Ola Hjalmarson, Gittan Kollberg, Elisabeth Holme, European journal of pediatrics - Feb 2010 The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. C Rouzier, S Le Guédard-Méreuze, K Fragaki, V Serre, J Miro, S Tuffery-Giraud, A Chaussenot, S Bannwarth, C Caruba, E Ostergaard, J-F Pellissier, C Richelme, C Espil, B Chabrol, V Paquis-Flucklinger, Journal of medical genetics - Oct 2010 |