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

Hou, Yue; Zhao, Xutong; Xie, Zhiying; Yu, Meng; Lv, He; Zhang, Wei; Yuan, Yun; Wang, Zhaoxia

Hou, Yue; Zhao, Xutong; Xie, Zhiying; Yu, Meng; Lv, He; Zhang, Wei; Yuan, Yun; Wang, Zhaoxia.

Afiliación

Hou Y; Department of Neurology, Peking University First Hospital, Beijing, China.
Zhao X; Department of Geriatrics, Peking University First Hospital, Beijing, China.
Xie Z; Department of Neurology, Peking University First Hospital, Beijing, China.
Yu M; Department of Neurology, Peking University First Hospital, Beijing, China.
Lv H; Department of Neurology, Peking University First Hospital, Beijing, China.
Zhang W; Department of Neurology, Peking University First Hospital, Beijing, China.
Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China.
Wang Z; Department of Neurology, Peking University First Hospital, Beijing, China.

Mol Genet Genomic Med ; 10(5): e1921, 2022 05.

Article en En | MEDLINE | ID: mdl-35289132

Asunto(s)

Oftalmoplejía Externa Progresiva Crónica; China; ADN Mitocondrial/genética; Femenino; Humanos; Masculino; Mitocondrias/genética; Oftalmoplejía Externa Progresiva Crónica/genética; Linaje

Palabras clave

POLG; POLG2; RRM2B; TK2; TWNK; mtDNA maintenance defect; multiple mtDNA deletion; progressive external ophthalmoplegia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oftalmoplejía Externa Progresiva Crónica Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos

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