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Article

Novel MPZ mutations and congenital hypomyelinating neuropathy.

Neuromuscular disorders : NMD - 1 Nov 2010

McMillan Hugh J, Santagata Sandro, Shapiro Frederic, Batish Sat Dev, Couchon Libby, Donnelly Stephen, Kang Peter B

Abstract excerpt

We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve biopsy. The cases illustrate the clinically heterogeneity that exists even within early-onset forms of this disease. They...

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Source

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Identifiers

PMID: 20621479
DOI: 10.1016/j.nmd.2010.06.004
PMCID: PMC2952650

Genes

MPZ

Variants

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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