Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions

OBJECTIVES: This study aimed to investigate the clinical and genetic spectrum in Chinese patients with multiple mtDNA deletions presenting with autosomal‐inherited mitochondrial progressive external ophthalmoplegia (PEO). METHODS: Long‐range polymerase chain reaction and massively parallel sequencin...

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Detalles Bibliográficos
Autores principales: Hou, Yue, Zhao, Xutong, Xie, Zhiying, Yu, Meng, Lv, He, Zhang, Wei, Yuan, Yun, Wang, Zhaoxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034679/
https://www.ncbi.nlm.nih.gov/pubmed/35289132
http://dx.doi.org/10.1002/mgg3.1921

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034679/
https://www.ncbi.nlm.nih.gov/pubmed/35289132
http://dx.doi.org/10.1002/mgg3.1921

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