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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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Detalles Bibliográficos
Autores principales: Kistol, Denis, Tsygankova, Polina, Krylova, Tatiana, Bychkov, Igor, Itkis, Yulia, Nikolaeva, Ekaterina, Mikhailova, Svetlana, Sumina, Maria, Pechatnikova, Natalia, Kurbatov, Sergey, Bostanova, Fatima, Migiaev, Ochir, Zakharova, Ekaterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9865855/
https://www.ncbi.nlm.nih.gov/pubmed/36675121
http://dx.doi.org/10.3390/ijms24021597