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Article

Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2006

Kilfoyle D H, Dyck P J, Wu Y, Litchy W J, Klein D M, Dyck P J B, Kumar N, Cunningham J M, Klein C J

Abstract excerpt

BACKGROUND: Mutations of myelin protein zero (MPZ) may cause inherited neuropathy with variable expression. OBJECTIVE: To report phenotypic variability in a large American kindred with MPZ mutation His39Pro. PATIENTS: Genetic testing was performed on 77 family members and 200 controls. Clinical and electrophysiological field study assessments were available for review in 47 family members. RESULTS: His39Pro was...

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Identifiers

PMID: 16844954
DOI: 10.1136/jnnp.2006.090076
PMCID: PMC2077629

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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