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Article

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.

Brain pathology (Zurich, Switzerland) - 1 Apr 2000

Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder J M

Abstract excerpt

Mutations in the gene for the major protein component of peripheral nerve myelin, myelin protein zero (MPZ, P0), cause hereditary disorders of Schwann cell myelin such as Charcot-Marie-Tooth neuropathy type 1B (CMT1B), Dejerine-Sottas syndrome (DSS), and congenital hypomyelinating neuropathy (CHN). More recently, P0 mutations were identified in the axonal type of CMT neuropathy, CMT2, which is different from the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 10764043
DOI: 10.1111/j.1750-3639.2000.tb00257.x
PMCID: PMC8098375

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.PMID 10764043Read ↗

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.Semantic proximity Read ↗

A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.Semantic proximity Read ↗

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

Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.Semantic proximity Read ↗

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

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain.Semantic proximity Read ↗

Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis.Semantic proximity Read ↗

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.Semantic proximity Read ↗

Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.Semantic proximity Read ↗

New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.Semantic proximity Read ↗

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.Semantic proximity Read ↗

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