2023
DOI: 10.1111/ene.15937
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Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease

Abstract: BackgroundX‐Linked Charcot–Marie–Tooth disease type 1 (CMTX1) is characterized by gender differences in clinical severity. Women are usually clinically affected later and less severely than men. However, their clinical presentation appears to be heterogenous. Our aim was to extend the phenotypic description in a large series of women with CMTX1.MethodsWe retrospectively evaluated 263 patients with CMTX1 from 11 French reference centers. Demographic, clinical, and nerve conduction data were collected. The sever… Show more

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“…As a clinical neurologist who sees patients with peripheral neuropathies, I am very intrigued by this paper on 263 patients with X-linked Charcot-Marie-Tooth disease (CMTX), among them 137 women [1]. In our clinical practice, one of the main tasks is to distinguish treatable from non-treatable aetiologies.…”
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confidence: 99%
“…As a clinical neurologist who sees patients with peripheral neuropathies, I am very intrigued by this paper on 263 patients with X-linked Charcot-Marie-Tooth disease (CMTX), among them 137 women [1]. In our clinical practice, one of the main tasks is to distinguish treatable from non-treatable aetiologies.…”
mentioning
confidence: 99%