A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants

Primary coenzyme Q10 deficiency-6 (COQ10D6), as a rare autosomal recessive disease caused by COQ6 mutations, is characterized by progressive infantile-onset nephrotic syndrome resulting in end-stage renal failure and sensorineural hearing loss. Here, we report two Chinese siblings with COQ10D6 who p...

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Detalles Bibliográficos
Autores principales: Wang, Na, Zheng, Youmin, Zhang, Lingzi, Tian, Xiong, Fang, Yicheng, Qi, Ming, Du, Juping, Chen, Shuaishuai, Chen, Shiyong, Li, Jun, Shen, Bo, Wang, Lizhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802230/
https://www.ncbi.nlm.nih.gov/pubmed/35111204
http://dx.doi.org/10.3389/fgene.2021.811833

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802230/
https://www.ncbi.nlm.nih.gov/pubmed/35111204
http://dx.doi.org/10.3389/fgene.2021.811833

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