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Article

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

Muscle & nerve - 1 Nov 2017

Cerino Mathieu, Gorokhova Svetlana, Laforet Pascal, Ben Yaou Rabah, Salort-Campana Emmanuelle, Pouget Jean, Attarian Shahram, Eymard Bruno, Deleuze Jean-François, Boland Anne, Behin Anthony, Stojkovic Tanya, Bonne Gisele, Levy Nicolas, Bartoli Marc, Krahn Martin

Abstract excerpt

INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates with targeted single-gene sequencing. This is true for the most prevalent form of hIBM, GNEpathy. Therefore, we used whole-exome sequencing (WES) to determine whether a cohort of...

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Identifiers

PMID: 28256728
DOI: 10.1002/mus.25638

Genes

GNE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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