Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-1331.2008.02263.x/fullpdf
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1. Clinical, electrophysiological and molecular genetic characteristic of 93 patients with X-linked CMT disease;Dubourg;Brain,2001
2. The CNS phenotype of X-linked CMT disease;Taylor;Neurology,2003
3. Connexins are critical for normal myelination in the CNS;Menichella;The Journal of Neuroscience,2003
4. Transient, recurrent, white matter lesions in X-linked CMT disease with novel connexin 32 mutation;Hanemann;Archives of Neurology,2003
5. GJB1 mutations and central nervous system in X-linked CMT disease;Takashima;Acta Neurologica Scandinavica,2003
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2. Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center;Neurological Sciences;2020-01-04
3. Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy;Neuromuscular Disorders;2018-08
4. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient;Rinsho Shinkeigaku;2018
5. Mutation Analysis of Gap Junction Protein Beta 1 and Genotype–Phenotype Correlation in X-linked Charcot–Marie–Tooth Disease in Chinese Patients;Chinese Medical Journal;2016-05-05
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