X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation Ile127Ser in theGJB1 (connexin 32) gene
Author:
Publisher
Wiley
Subject
Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology
Reference13 articles.
1. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene
2. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: Clinical and electrophysiologic study
3. Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease
4. Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot–Marie–Tooth neuropathy
5. The challenge of CMTX and connexin 32 mutations
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1. Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease;neurogenetics;2022-05-13
2. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01
3. Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease;International Journal of Molecular Sciences;2020-10-08
4. Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X;Human Molecular Genetics;2019-08-14
5. Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot–Marie–Tooth Type 1: A case report and literature review;Clinical Neurology and Neurosurgery;2019-05
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