Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolated respiratory chain complex I deficiency. Clinical heterog...

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Detalles Bibliográficos
Autores principales: Alahmad, Ahmad, Nasca, Alessia, Heidler, Juliana, Thompson, Kyle, Oláhová, Monika, Legati, Andrea, Lamantea, Eleonora, Meisterknecht, Jana, Spagnolo, Manuela, He, Langping, Alameer, Seham, Hakami, Fahad, Almehdar, Abeer, Ardissone, Anna, Alston, Charlotte L, McFarland, Robert, Wittig, Ilka, Ghezzi, Daniele, Taylor, Robert W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7645371/
https://www.ncbi.nlm.nih.gov/pubmed/32969598
http://dx.doi.org/10.15252/emmm.202012619

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