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

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

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). Material-methods: Sixteen patients diagnosed to have SURF1-related LS between 2012 and 2020 were included in the s...

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Main Authors: Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
COX deficiency
Leigh syndrome
Neuroregression
Next-generation sequencing
Nuclear mitochondrial disorders
SURF1 gene
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301038

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http://www.sciencedirect.com/science/article/pii/S2214426920301038

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