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Article

Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2013

Young Terence, Shuey Neil, Partridge Jonathan, Bremner Fion D, Nicholl David J

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Identifiers

PMID: 23197742
DOI: 10.1136/jnnp-2012-302469

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 11 Sept 2026.

Related research

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Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation.PMID 23197742Read ↗

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

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 ↗

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

Charcot‐Marie‐Tooth Disease: A Clinico‐genetic ConfrontationSemantic proximity Read ↗

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.Semantic proximity Read ↗

[Charcot-Marie-Tooth (CMT) disease: an update].Semantic proximity Read ↗

Charcot–Marie–Tooth diseases: an update and some new proposals for the classificationSemantic 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 ↗

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