Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome

INTRODUCTION: Mitochondrial complex I deficiency (MCID) and abbFINCA syndrome are lethal congenital diseases and cases in the neonatal period are rarely reported. Here, we identified a Chinese Hani minority neonate with rare MCID and FINCA syndrome. This study was to analyze the clinical manifestati...

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Detalles Bibliográficos
Autores principales: Li, Yangfang, Zhang, Yu, Jiang, Gengpan, Wang, Yan, He, Canlin, Zhao, Xiaofen, Liu, Ling, Li, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259100/
https://www.ncbi.nlm.nih.gov/pubmed/35801790
http://dx.doi.org/10.1097/MD.0000000000029239

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