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

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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

Edité par CCSD ; Wiley -

International audience. 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 clinically suspected GNEpathy patients undiagnosed by targeted GNE analysis could be genetically characterized.

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