Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome

SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been shown in vitro to possess both double‐stranded RNA and DNA unwinding activity that is ATP‐dependent. Here we report the first two patients for this gene who presented with a homozygous preliminary stop codon resulti...

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Detalles Bibliográficos
Autores principales: van Esveld, Selma L., Rodenburg, Richard J., Al‐Murshedi, Fathiya, Al‐Ajmi, Eiman, Al‐Zuhaibi, Sana, Huynen, Martijn A., Spelbrink, Johannes N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303385/
https://www.ncbi.nlm.nih.gov/pubmed/35023579
http://dx.doi.org/10.1002/jimd.12476

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303385/
https://www.ncbi.nlm.nih.gov/pubmed/35023579
http://dx.doi.org/10.1002/jimd.12476

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