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Article

Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene.

Clinical neurology and neurosurgery - 1 Feb 2013

Nishiyama Shuhei, Sugeno Naoto, Tateyama Maki, Aoki Masashi

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Identifiers

PMID: 22633464
DOI: 10.1016/j.clineuro.2012.04.016

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene.PMID 22633464Read ↗

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.Semantic proximity Read ↗

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.Semantic proximity Read ↗

Late-onset CMT phenotype caused by a novel mutation in the MPZ gene.Semantic proximity Read ↗

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Semantic proximity Read ↗

Axonal and demyelinating forms of the MPZ Thr124Met mutation.Semantic proximity Read ↗

Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.Semantic proximity Read ↗

A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.Semantic proximity Read ↗

Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.Semantic proximity Read ↗

Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.Semantic proximity Read ↗

MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.Semantic proximity Read ↗

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.Semantic proximity Read ↗

Recessive Charcot-Marie-tooth disease.Semantic proximity Read ↗

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