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

Kose M., CANDA E., Kagnici M., AYKUT A., Adebali O., DURMAZ A., ...Daha Fazla

MOLECULAR GENETICS AND METABOLISM REPORTS, cilt.25, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.ymgmr.2020.100657
  • Dergi Adı: MOLECULAR GENETICS AND METABOLISM REPORTS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
  • Anahtar Kelimeler: COX deficiency, Leigh syndrome, Neuroregression, Next-generation sequencing, Nuclear mitochondrial disorders, SURF1 gene, MUTATIONS, FEATURES, DISEASE, MUSCLE
  • Ankara Üniversitesi Adresli: Evet

Özet

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).