Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

Biallelic pathogenic variants in NDUFS8, a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clinical spectrum of NDUFS8‐related disorder. We present three...

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Detalles Bibliográficos
Autores principales: Andzelm, Milena M., Balasubramaniam, Shanti, Yang, Edward, Compton, Alison G., Millington, Kate, Zhu, Jia, Anselm, Irina, Rodan, Lance H., Thorburn, David R., Christodoulou, John, Srivastava, Siddharth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458602/
https://www.ncbi.nlm.nih.gov/pubmed/36101822
http://dx.doi.org/10.1002/jmd2.12303

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458602/
https://www.ncbi.nlm.nih.gov/pubmed/36101822
http://dx.doi.org/10.1002/jmd2.12303

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