X 连锁遗传性运动感觉神经病（CMT）表型谱的扩展。
Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
出版信息
J Clin Neurosci. 2020 Mar;73:311-313. doi: 10.1016/j.jocn.2020.01.029. Epub 2020 Jan 24.
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.
腓骨肌萎缩症（CMT）是最常见的遗传性周围神经病。已知 GJB1 基因中的 X 连锁腓骨肌萎缩症为 CMTX1。我们报告了一例 14 岁的年轻男性，表现为步态不稳、双侧足下垂、严重脱发和阵发性双侧上肢震颤而无明显肌肉萎缩。全外显子组测序诊断显示 GJB1 基因外显子 2 中的 c.278T > A 杂合错义突变，导致成熟蛋白第 93 位赖氨酸（p.M93K）。这是首例报道的伴有斑秃的 CMT 病例。
Zotero 插件