X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected Female Patient with Scattered Lesions in Cerebral White Matter
Author:
Affiliation:
1. Department of Neurology, Hokkaido University Graduate School of Medicine
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
http://www.jstage.jst.go.jp/article/internalmedicine/46/13/46_13_1023/_pdf
Reference21 articles.
1. An Epidemiological Genetic Study of Charcot-Marie-Tooth Disease in Western Japan
2. Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population
3. Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease
4. X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation Ile127Ser in theGJB1 (connexin 32) gene
5. Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy
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1. Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes;Molecular Genetics & Genomic Medicine;2020-02-05
2. 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
3. Diseases of connexins expressed in myelinating glia;Neuroscience Letters;2019-03
4. X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association;Journal of Neurology, Neurosurgery & Psychiatry;2018-09-08
5. Genetische Diagnostik hereditärer Neuropathien im klinischen Alltag;Das Neurophysiologie-Labor;2018-06
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