ArticleJournal of clinical neurology (Seoul, Korea)2024
Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.
Article in Journal of clinical neurology (Seoul, Korea), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- Time to Open the Channel to Elucidate Pathomechanisms That Underlie Neurological Disorders Related to Channelopathies.Journal of clinical neurology (Seoul, Korea) · 2024Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
background and purposeX-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by peripheral neuropathy with or without episodic neurological dysfunction. We performed clinical, neuropathological, and genetic investigations of a series of patients with mutations of the gap-junction beta-1 gene (
methodsDetailed clinical evaluations, sural nerve biopsy, and genetic analysis were applied to patients with CMTX1.
resultsWe collected 27 patients with CMTX1 with
conclusionsThese findings expand the phenotypic and genetic spectrum of CMTX1. Although CMTX1 was found to have high phenotypic and CNS involvement variabilities, detailed neurological examinations and nerve conduction studies will provide critical clues for accurate diagnoses. Further exploration of the underlying mechanisms of connexin 32 involvement in neuropathy or CNS dysfunction is warranted to develop promising therapies.
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