Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia

Leigh syndrome (LS), also known as infantile subacute necrotizing encephalopathy, is the most frequent mitochondrial disorder in children. Recently, more than 80 genes have been associated with LS, which greatly complicates the diagnosis. In this article, we present clinical and molecular findings o...

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Bibliographic Details
Main Authors: Denis Kistol, Polina Tsygankova, Tatiana Krylova, Igor Bychkov, Yulia Itkis, Ekaterina Nikolaeva, Svetlana Mikhailova, Maria Sumina, Natalia Pechatnikova, Sergey Kurbatov, Fatima Bostanova, Ochir Migiaev, Ekaterina Zakharova
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
Leigh syndrome
mitochondrial diseases
mitochondrial DNA
<i>SURF1</i>
Online Access:https://www.mdpi.com/1422-0067/24/2/1597

Internet

https://www.mdpi.com/1422-0067/24/2/1597

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