Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.

Neuromuscular disorders : NMD - 1 Mar 2011

Murphy Sinéad M, Laurá Matilde, Blake Julian, Polke James, Bremner Fion, Reilly Mary M

Abstract excerpt

We report a patient with Charcot-Marie-Tooth disease (CMT) due to the p.Ile112Thr mutation in myelin protein zero (MPZ) who presented with a patchy neuropathy with conduction block and tonic pupils. Conduction block is unusual in inherited neuropathies, while pupil abnormalities are recognised to occur in CMT especially due to MPZ mutations. This case highlights that patchy demyelinating neuropathy with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease
Share to MPZ gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Isoleucine

Share to Mutation

Share to Myelin P0 Protein

Share to Neural Conduction

Share to Threonine

Source

Identifiers

PMID: 21256749
DOI: 10.1016/j.nmd.2010.12.010

Genes

MPZ

Variants

Provenance

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.PMID 21256749Read ↗

Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.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 Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.Semantic proximity Read ↗

Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.Semantic proximity Read ↗

A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions.Semantic proximity Read ↗

Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.Semantic proximity Read ↗

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

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

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).Semantic proximity Read ↗

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

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

Thr124Met myelin protein zero mutation mimicking motor neuron disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.