Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.

Zhou, Xun; Wang, Yige; He, Runcheng; Liu, Zhenhua; Xu, Qian; Guo, Jifeng; Yan, Xinxiang; Li, Jinchen; Tang, Beisha; Zeng, Sheng; Sun, Qiying

Zhou, Xun; Wang, Yige; He, Runcheng; Liu, Zhenhua; Xu, Qian; Guo, Jifeng; Yan, Xinxiang; Li, Jinchen; Tang, Beisha; Zeng, Sheng; Sun, Qiying.

Afiliación

Zhou X; Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, China.
Wang Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
He R; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Liu Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Xu Q; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
Guo J; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Yan X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Li J; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
Tang B; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Zeng S; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Sun Q; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.

Ann Clin Transl Neurol ; 10(9): 1590-1602, 2023 09.

Article en En | MEDLINE | ID: mdl-37475517

Asunto(s)

Paraplejía Espástica Hereditaria; Humanos; Paraplejía Espástica Hereditaria/genética; Proteína Proteolipídica de la Mielina/genética; Mutación; Mutación Missense; Fenotipo; Factores de Transcripción/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Ann Clin Transl Neurol Año: 2023 Tipo del documento: Article País de afiliación: China

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