Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

(2010) C. Rouzier et al.   JOURNAL OF MEDICAL GENETICS

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch

(2010) Henry Rivera et al.   MITOCHONDRION

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

(2010) Vassili Valayannopoulos et al.   MITOCHONDRION

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder

(2010) Linda M. Randolph et al.   MOLECULAR GENETICS AND METABOLISM

Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

(2010) Johan L K Van Hove et al.   PEDIATRIC RESEARCH

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

(2009) Elsebet Ostergaard et al.   EUROPEAN JOURNAL OF PEDIATRICS

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II

(2009) Shunsaku Kaji et al.   MOLECULAR GENETICS AND METABOLISM

Disorders caused by deficiency of succinate-CoA ligase

(2008) E. Ostergaard   JOURNAL OF INHERITED METABOLIC DISEASE