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Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.
Li, Lu; Xie, Yongzhi; Zeng, Sen; Li, Xiaobo; Lin, Zhiqiang; Huang, Shunxiang; Zhao, Huadong; Cao, Wanqian; Liu, Lei; Liu, Jun; Rong, Pengfei; Zhang, Ruxu.
Afiliación
  • Li L; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Xie Y; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Zeng S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Li X; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Lin Z; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Huang S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Zhao H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Cao W; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Liu L; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Liu J; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Rong P; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Zhang R; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China.
J Peripher Nerv Syst ; 28(4): 608-613, 2023 12.
Article en En | MEDLINE | ID: mdl-37584201
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial / Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Observational_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial / Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Observational_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China