Charcot-Marie-Tooth 1A: Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype
Author:
Publisher
Wiley
Subject
History and Philosophy of Science,General Biochemistry, Genetics and Molecular Biology,General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1749-6632.1999.tb08617.x/fullpdf
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2. Charcot-Marie-Tooth type 1A: association with a spontaneus point mutation in the PMP22 gene;Roa;N. Engl. J. Med.,1993
3. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study;Birouk;Neurology,1998
4. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene;Marossu;Neurology,1998
5. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies;Warner;Nat. Genet.,1998
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3. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease;European Journal of Medical Genetics;2018-10
4. Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion;Muscle & Nerve;2015-06-19
5. Mutational analysis ofGJB1,MPZ,PMP22,EGR2, andLITAF/SIMPLEin Serbian Charcot-Marie-Tooth patients;Journal of the Peripheral Nervous System;2009-06
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