Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.T65I
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MPZ

NM_000530.8:p.T65I

Associated Papers

Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.

Lei L et al.

European Journal of Neurology, 2023

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

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients.

Chen B et al.

Frontiers in Neurology, 2021

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Hsu YH et al.

Annals of Clinical and Translational Neurology, 2019

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Nadol JB et al.

Audiology & Neuro-otology, 2018

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

Two novel MPZ mutations in Chinese CMT patients.

Liu L et al.

Journal of the Peripheral Nervous System : Jpns, 2013

Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.

Lee YC et al.

Journal of Neurology, 2005

Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.

Lee YC et al.

Journal of the Neurological Sciences, 2004

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Kochanski A et al.

Neuromuscular Disorders : Nmd, 2004

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

Numakura C et al.

Human Mutation, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."