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Article

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.

The Journal of comparative neurology - 10 Sept 2006

Li Jun, Bai Yunhong, Ianakova Emilia, Grandis Marina, Uchwat Fred, Trostinskaia Anna, Krajewski Karen M, Garbern James, Kupsky William J, Shy Michael E

Abstract excerpt

Mutations in the major peripheral nervous system (PNS) myelin protein, myelin protein zero (MPZ), cause Charcot-Marie-Tooth Disease type 1B (CMT1B), typically thought of as a demyelinating peripheral neuropathy. Certain MPZ mutations, however, cause adult onset neuropathy with minimal demyelination but pronounced axonal degeneration. Mechanism(s) for this phenotype are unknown. We performed an autopsy of a...

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Identifiers

PMID: 16856127
DOI: 10.1002/cne.21051

Genes

MPZ

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.PMID 16856127Read ↗

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Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.Semantic proximity Read ↗

Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT).Semantic proximity Read ↗

MPZ-T124M mouse model replicates human axonopathy and suggest alteration in axo-glia communicationSemantic proximity Read ↗

Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.Semantic proximity Read ↗

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