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Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.
Yang, Qijie; Xiao, Xuewen; Yuan, Zhenhua; Jiao, Bin; Liao, Xinxin; Du, Juan.
Afiliación
  • Yang Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Xiao X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Yuan Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Jiao B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
  • Liao X; Department of Geriatrics Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
  • Du J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China. Electronic address: 30670496@qq.com.
J Clin Neurosci ; 73: 311-313, 2020 Mar.
Article en En | MEDLINE | ID: mdl-31987637
Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. X-linked Charcot-Marie-Tooth disease in the GJB1 gene is known as CMTX1. We report a 14 years-old young man with walked unstably, bilateral strephenopodia, severe alopecia and paroxysmal bilateral upper limbs tremor without obvious muscle atrophy. Diagnostic whole-exome sequencing revealed a hemizygote missense mutation c.278 T > A in exon 2 of the GJB1 gene, with lysine at position 93 of the mature protein (p.M93K). This is the first CMT case with alopecia areata reported in the world.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Charcot-Marie-Tooth / Conexinas Tipo de estudio: Prognostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: J Clin Neurosci Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedad de Charcot-Marie-Tooth / Conexinas Tipo de estudio: Prognostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: J Clin Neurosci Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido