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Article

A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.

Neuromuscular disorders : NMD - 1 Dec 2010

Piazza Selina, Baldinotti Fulvia, Fogli Antonella, Conidi Maria Elena, Michelucci Angela, Ienco Elena Caldarazzo, Mancuso Michelangelo, Simi Paolo, Siciliano Gabriele

Abstract excerpt

We have investigated a 34-year-old female who had mild clinical and electrophysiological features of demyelinating peripheral neuropathy. She presented a novel frameshift mutation (V160fsX3) in the exon 4 of the Myelin Protein Zero (MPZ) gene. Clinical and genetic studies performed on her family revealed the same mutation in her oligosymptomatic mother and sister. Our report expands the number of MPZ mutations...

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Source

Identifiers

PMID: 20850974
DOI: 10.1016/j.nmd.2010.08.003

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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