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Article

Marked phenotypic variation in a family with a new myelin protein zero mutation.

Neuromuscular disorders : NMD - 1 Nov 2005

Szabo A, Züchner S, Siska E, Mechler F, Molnar M J

Abstract excerpt

Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily, which has a role in myelin compaction. MPZ gene mutations cause mostly demyelinating neuropathies of the Charcot-Marie-Tooth 1B type (CMT1B), but axonal CMT have been described as well. There is a broad spectrum of phenotypic manifestation of neuropathies caused by MPZ mutations. Some mutations of MPZ cause severe early-onset...

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Source

Identifiers

PMID: 16198109
DOI: 10.1016/j.nmd.2005.07.006

Genes

MPZ

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.

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