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Article

Novel mutation in SUCLA2 identified on sequencing analysis.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jul 2016

Güngör Olcay, Özkaya Ahmet Kağan, Güngör Gülay, Karaer Kadri, Dilber Cengiz, Aydin Kürşad

Abstract excerpt

Succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2)-related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP-using isoform of the beta subunit in succinyl-CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a mitochondrial disorder that manifests as deafness, lesions in the...

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Source

Identifiers

PMID: 26952923
DOI: 10.1111/ped.12921

Genes

SUCLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

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Novel mutation in SUCLA2 identified on sequencing analysis.PMID 26952923Read ↗

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Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.Semantic proximity Read ↗

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A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.Semantic proximity Read ↗

Disorders caused by deficiency of succinate-CoA ligase.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.Semantic proximity Read ↗

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.Semantic proximity Read ↗

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.Semantic proximity Read ↗

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.Semantic proximity Read ↗

The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.Semantic proximity Read ↗

[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].Semantic proximity Read ↗

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