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Article

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology.

Journal of the neurological sciences - 15 Dec 2015

Fallerini Chiara, Carignani Giulia, Capoccitti Giorgio, Federico Antonio, Rufa Alessandra, Pinto Anna Maria, Rizzo Caterina Lo, Rossi Alessandro, Mari Francesca, Mencarelli Maria Antonietta, Giannini Fabio, Renieri Alessandra

Abstract excerpt

Hereditary motor and sensory neuropathies (HMSN) are genetically heterogeneous disorders affecting peripheral motor and sensory functions. Many different pathogenic variants in several genes involved in the demyelinating, the axonal and the intermediate HMSN forms have been identified, for which all inheritance patterns have been described. The mutation screening currently available is based on Sanger sequencing...

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Identifiers

PMID: 26481167
DOI: 10.1016/j.jns.2015.09.377

Genes

DNM2
MFN2
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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