Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0404.2004.00295.x/fullpdf
Reference15 articles.
1. Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
2. Dejerine-sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible ?hot spot? on Ser72
3. The phenotypic manifestations of chromosome 17p11.2 duplication
4. Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication
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1. A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant;Revue Neurologique;2023-10
2. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01
3. Homozygous splice‐site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy;Neuropathology;2019-11-27
4. Rodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP;Journal of the Neurological Sciences;2019-03
5. A longitudinal clinicopathological study of two unrelated patients with Charcot–Marie–Tooth disease type 1E;Neurology India;2017
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