New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

doi:10.1007/s12031-016-0739-2

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Article

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Journal of molecular neuroscience : MN - 1 Jul 2016

Piga Daniela, Magri Francesca, Ronchi Dario, Corti Stefania, Cassandrini Denise, Mercuri Eugenio, Tasca Giorgio, Bertini Enrico, Fattori Fabiana, Toscano Antonio, Messina Sonia, Moroni Isabella, Mora Marina, Moggio Maurizio, Colombo Irene, Giugliano Teresa, Pane Marika, Fiorillo Chiara, D'Amico Adele, Bruno Claudio, Nigro Vincenzo, Bresolin Nereo, Comi Giacomo Pietro

Abstract excerpt

Nemaline myopathy represents a group of clinically and genetically heterogeneous neuromuscular disorders. Different clinical-genetic entities have been characterized in the last few years, with implications for diagnostics and genetic counseling. Fifty percent of nemaline myopathy forms are due to NEB mutations, but genetic analysis of this large and complex gene by Sanger sequencing is time consuming and...

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Identifiers

PMID: 27105866
DOI: 10.1007/s12031-016-0739-2

Genes

NEB
ACTA1
TPM2
TPM3

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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