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

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

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

The Genetics of Mitochondrial Disease

(2012) Ryan Davis et al.   SEMINARS IN NEUROLOGY

The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion

(2011) Chaya Miller et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Defects in mitochondrial DNA replication and human disease

(2011) William C. Copeland   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

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

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

Clinical and molecular features of mitochondrial DNA depletion syndromes

(2009) A. Spinazzola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk

(2009) A. Spinazzola et al.   JOURNAL OF INTERNAL MEDICINE