A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference10 articles.
1. Hereditary motor and sensory neuropathies;Vance;J Med Genet,1991
2. The clinical features of hereditary motor and sensory neuropathy types I and II;Harding;Brain,1980
3. Molecular cell biology of Charcot-Marie-Tooth disease;Berger;Neurogenetics,2002
4. Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics;Ionasescu;Muscle Nerve,1995
5. Connexin mutations in X-linked Charcot-Marie-Tooth disease;Bergoffen;Science,1993
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01
2. Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review;Journal of Neurology;2017-03-31
3. Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease;Journal of Human Genetics;2008-04-01
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