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Clinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese patient.
Chen, Bin; Zhang, Zaiqiang; Zhang, Cuiping; Niu, Songtao; Pan, Hua; Dong, Gehong; Wang, Xingao.
Afiliación
  • Chen B; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China.
  • Zhang Z; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China. Electronic address: ttyy0142011@126.com.
  • Zhang C; Department of Ultrastructural Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
  • Niu S; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China.
  • Pan H; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China.
  • Dong G; Department of Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
  • Wang X; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Clin Neurol Neurosurg ; 213: 107118, 2022 02.
Article en En | MEDLINE | ID: mdl-34995833
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial / L-Iditol 2-Deshidrogenasa Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans País/Región como asunto: Asia Idioma: En Revista: Clin Neurol Neurosurg Año: 2022 Tipo del documento: Article País de afiliación: China
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial / L-Iditol 2-Deshidrogenasa Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans País/Región como asunto: Asia Idioma: En Revista: Clin Neurol Neurosurg Año: 2022 Tipo del documento: Article País de afiliación: China