Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.Y145*
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MPZ

NM_000530.8:p.Y145*

Associated Papers

Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.

Subréville M et al.

European Journal of Neurology, 2021

Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.

Hauw F et al.

European Journal of Neurology, 2021

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 MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.

Iida M et al.

Neuromuscular Disorders : Nmd, 2012

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

A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.

Magot A et al.

Muscle & Nerve, 2008

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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."