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Article

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Neurology - 29 Oct 2013

Sivera Rafael, Sevilla Teresa, Vílchez Juan Jesús, Martínez-Rubio Dolores, Chumillas María José, Vázquez Juan Francisco, Muelas Nuria, Bataller Luis, Millán José María, Palau Fancesc, Espinós Carmen

Abstract excerpt

OBJECTIVES: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. METHODS: A thorough genetic screening, including most of the known genes involved in this disease, was performed and analyzed in this longitudinal descriptive study. Clinical data were analyzed and compared among...

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Identifiers

PMID: 24078732
DOI: 10.1212/WNL.0b013e3182a9f56a
PMCID: PMC3806911

Genes

GDAP1
GJB1
MFN2
PMP22

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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