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

Kose, Melis; CANDA, EBRU; Kagnici, Mehtap; AYKUT, AYÇA; Adebali, Ogun; DURMAZ, ASUDE; Bircan, Aylin; Diniz, Gulden; ERASLAN, CENK; KÖSE, ENGİN; Unalp, Aycan; Yilmaz, Unsal; Ozyilmaz, Berk; Ozdemir, Taha; ATİK, TAHİR; Ucar, Sema; McFarland, Robert; Taylor, Robert; Brown, Garry; ÇOKER, MAHMUT; Ozkinay, Ferda

doi:10.1016/j.ymgmr.2020.100657

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, Scopus)

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).