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  • Title: Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.
    Author: Yang Q, Xiao X, Yuan Z, Jiao B, Liao X, Du J.
    Journal: J Clin Neurosci; 2020 Mar; 73():311-313. PubMed ID: 31987637.
    Abstract:
    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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