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Published January 1, 2020 | Version v1
Journal article Open

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

Creators

  • 1. Izmir Katip Celebi Univ, Div Pediat Metab & Nutr, Dept Pediat, Fac Med, Ismet Kaptan St, TR-35100 Izmir, Turkey
  • 2. Ege Univ, Div Nutr & Metab, Dept Pediat, Fac Med, Izmir, Turkey
  • 3. Univ Hlth Sci, Antalya Training & Res Hosp, Div Metab & Nutr, Dept Pediat, Antalya, Turkey
  • 4. Ege Univ, Dept Med Genet, Fac Med, Izmir, Turkey
  • 5. Sabanci Univ, Fac Engn & Nat Sci, Mol Biol Genet & Bioengn Program, Adebali Lab, Istanbul, Turkey
  • 6. Izmir Democracy Univ, Dept Pathol, Fac Med, Izmir, Turkey
  • 7. Ege Univ, Div Neuroradiol, Dept Radiol, Fac Med, Izmir, Turkey
  • 8. Ankara Univ, Div Metab & Nutr, Dept Pediat, Fac Med, Ankara, Turkey
  • 9. Univ Hlth Sci, Behcet Uz Children Training & Res Hosp, Div Neurol, Dept Pediat, Izmir, Turkey
  • 10. Univ Hlth Sci, Dept Med Genet, Tepecik Training & Res Hosp, Izmir, Turkey
  • 11. Ege Univ, Div Genet, Dept Pediat, Fac Med, Izmir, Turkey
  • 12. Newcastle Univ, Translat & Clin Res Inst, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England
  • 13. Oxford Univ Hosp NHS Fdn Trust, Churchill Hosp, Oxford Med Genet Labs, Oxford, England

Description

Introduction: Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS).

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