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Article

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

The Journal of molecular diagnostics : JMD - 1 Mar 2016

Lupo Vincenzo, García-García Francisco, Sancho Paula, Tello Cristina, García-Romero Mar, Villarreal Liliana, Alberti Antonia, Sivera Rafael, Dopazo Joaquín, Pascual-Pascual Samuel I, Márquez-Infante Celedonio, Casasnovas Carlos, Sevilla Teresa, Espinós Carmen

Abstract excerpt

Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the genetics of which are poorly characterized. We designed a panel comprising 56 genes associated with Charcot-Marie-Tooth disease/hereditary motor neuropathy. We validated this diagnostic tool by first...

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PMID: 26752306
DOI: 10.1016/j.jmoldx.2015.10.005

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DNAJB2

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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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