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Article

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

American journal of medical genetics. Part A - 15 Sept 2007

Kabzińska Dagmara, Korwin-Piotrowska Teresa, Drechsler Hanna, Drac Hanna, Hausmanowa-Petrusewicz Irena, Kochański Andrzej

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Source

Identifiers

PMID: 17663472
DOI: 10.1002/ajmg.a.31908

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.PMID 17663472Read ↗

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

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 ↗

A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

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

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

Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.Semantic proximity Read ↗

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.Semantic proximity Read ↗

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.Semantic proximity Read ↗

Loss of function MPZ mutation causes milder CMT1B neuropathy.Semantic proximity Read ↗

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