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

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion

(2014) Sanna Matilainen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Novel SUCLA2 Mutation in a Portuguese Child Associated With “Mild” Methylmalonic Aciduria

(2014) Célia Nogueira et al.   JOURNAL OF CHILD NEUROLOGY

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine

(2013) Elham Jaberi et al.   JOURNAL OF HUMAN GENETICS

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

(2012) Tomas Honzik et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

(2012) R.J.T. Rodenburg et al.   MITOCHONDRION

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

(2012) Costanza Lamperti et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

(2012) Aleix Navarro-Sastre et al.   MOLECULAR GENETICS AND METABOLISM

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

(2011) Osamu Sakamoto et al.   PEDIATRICS INTERNATIONAL

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

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

(2009) Eva Morava et al.   MITOCHONDRION

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

(2008) Emma Blakely et al.   NEUROMUSCULAR DISORDERS