Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency

Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochondrial disease (SDHA/SDHB/SDHAF1). Additionally, va...

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Detalles Bibliográficos
Autores principales: Lin, Siying, Fasham, James, Al-Hijawi, Fida’, Qutob, Nouar, Gunning, Adam, Leslie, Joseph S., McGavin, Lucy, Ubeyratna, Nishanka, Baker, Wisam, Zeid, Ramez, Turnpenny, Peter D., Crosby, Andrew H., Baple, Emma L., Khalaf-Nazzal, Reham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484551/
https://www.ncbi.nlm.nih.gov/pubmed/34012134
http://dx.doi.org/10.1038/s41431-021-00887-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484551/
https://www.ncbi.nlm.nih.gov/pubmed/34012134
http://dx.doi.org/10.1038/s41431-021-00887-w

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