Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy

Here we elucidated the pathogenesis of a 14-year-old Chinese female who initially developed an isolated nephropathy followed by a complex clinical presentation with brain and muscle problems, which indicated that the disease process was possibly due to a mitochondrial dysfunction. Careful evaluation...

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Publicat a:Sci Rep
Autors principals: Wen, Shuzhen, Niedzwiecka, Katarzyna, Zhao, Weiwei, Xu, Shutian, Liang, Shaoshan, Zhu, Xiaodong, Xie, Honglang, Tribouillard-Tanvier, Déborah, Giraud, Marie-France, Zeng, Caihong, Dautant, Alain, Kucharczyk, Róża, Liu, Zhihong, di Rago, Jean-Paul, Chen, Huimei
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5095641/
https://ncbi.nlm.nih.gov/pubmed/27812026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep36313
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