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Article

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

Acta neurologica Scandinavica - 1 Nov 2008

Mazzeo A, Muglia M, Rodolico C, Toscano A, Patitucci A, Quattrone A, Messina C, Vita G

Abstract excerpt

OBJECTIVES: To describe clinical, electrophysiological and genetic data of five unrelated Sicilian pedigrees harbouring a heterozygous Ser78Leu mutation in the myelin protein zero (MPZ) extracellular domain. MATERIALS AND METHODS: Clinical, electrophysiological and genetic findings of 16 patients were reported. Polymorphic markers flanking the coding sequence of MPZ gene were also analysed. RESULTS: A wide range...

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Identifiers

PMID: 18422810
DOI: 10.1111/j.1600-0404.2008.01021.x

Genes

MPZ

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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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