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Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family

Background: Krabbe disease is caused by biallelic mutations of GALC gene. NDUFAF1 gene mutations are related to mitochondrial encephalopathy. To date, there has been no report on the co-pathogenesis of these two gene mutations. There were three children in a family who presented with global developm...

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Detalles Bibliográficos
Autores principales: Wu, Liwen, Liao, Xiangfu, Yang, Sai, Gan, Siyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8717148/
https://www.ncbi.nlm.nih.gov/pubmed/34975718
http://dx.doi.org/10.3389/fneur.2021.750095