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European Journal of Pediatrics

, Volume 169, Issue 2, pp 201–205 | Cite as

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

  • Elsebet OstergaardEmail author
  • Marianne Schwartz
  • Mustafa Batbayli
  • Ernst Christensen
  • Ola Hjalmarson
  • Gittan Kollberg
  • Elisabeth Holme
Original Paper

Abstract

Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the α subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis. We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations.

Keywords

Methylmalonic aciduria SUCLG1 SUCLA2 mtDNA depletion Encephalomyopathy Succinate-CoA ligase 

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Elsebet Ostergaard
    • 1
    Email author
  • Marianne Schwartz
    • 1
  • Mustafa Batbayli
    • 1
  • Ernst Christensen
    • 1
  • Ola Hjalmarson
    • 2
  • Gittan Kollberg
    • 3
  • Elisabeth Holme
    • 3
  1. 1.Department of Clinical Genetics 4062National University Hospital RigshospitaletCopenhagenDenmark
  2. 2.Department of PediatricsGothenburg UniversityGothenburgSweden
  3. 3.Department of Clinical ChemistrySahlgrenska University HospitalGothenburgSweden

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