Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

BACKGROUND: Progressive cavitating leukoencephalopathy (PCL) is thought to result from mutations in nuclear genes affecting mitochondrial function and energy metabolism. To date, mutations in two subunits of complex I, NDUFS1 and NDUFV1, have been reported to be related to PCL. METHODS: Patients und...

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Detalles Bibliográficos
Autores principales: Liu, Zhimei, Zhang, Li, Ren, Changhong, Xu, Manting, Li, Shufang, Ban, Rui, Wu, Ye, Chen, Ling, Sun, Suzhen, Elstner, Matthias, Shimura, Masaru, Ogawa-Tominaga, Minako, Murayama, Kei, Shi, Tieliu, Prokisch, Holger, Fang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961761/
https://www.ncbi.nlm.nih.gov/pubmed/33811136
http://dx.doi.org/10.1136/jmedgenet-2020-107383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961761/
https://www.ncbi.nlm.nih.gov/pubmed/33811136
http://dx.doi.org/10.1136/jmedgenet-2020-107383

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