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Article

Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2005

Sowden J E, Logigian E L, Malik K, Herrmann D N

Abstract excerpt

An in frame, lys236 deletion in the intracytoplasmic domain of myelin protein zero (MPZ) has recently been designated as a mutation possibly associated with Charcot-Marie-Tooth disease (CMT) but requiring further documentation. In this report we present a detailed clinical, electrophysiological, and genotype correlation in three generations of a family with the MPZ lys236del mutation and provide further evidence...

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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: 15716547
DOI: 10.1136/jnnp.2004.043968
PMCID: PMC1739547

Genes

MPZ
PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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