SUCLG1

Publications

Rouzier C et al. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. J Med Genet. 2010;47(10):670-676.  PMID: 20693550.

Ostergaard E et al. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet. 2007;81(2):383-387.  PMID: 17668387.

Ostergaard E et al. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Europ J Pediat. 2010;169(2):201-205.  PMID: 19526370.