Associated Papers
Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.
Comella M et al.
Case Reports in Pediatrics, 2022
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
33179255 (PubMed )
Supplement: CGE-99-359-s001.docx
A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.
Duan X et al.
Frontiers in Aging Neuroscience, 2016
Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.
Agrahari A et al.
Journal of Theoretical Biology, 2015
MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.
Choi BO et al.
International Journal of Molecular Medicine, 2011
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
Murphy SM et al.
Neuromuscular Disorders : Nmd, 2011
Multiplex detection and genotyping of point mutations involved in charcot-marie-tooth disease using a hairpin microarray-based assay.
Baaj Y et al.
Research Letters in Biochemistry, 2009
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
Santoro L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.
Bienfait HM et al.
Neuromuscular Disorders : Nmd, 2002
[Charcot-Marie-Tooth disease with early onset. Presentation of a family].
Zellweger H et al.
La Pediatria, 1971
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