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

Archive ouverte | Cerino, Mathieu | CCSD

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 genet...

LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

Archive ouverte | Ben Yaou, R. | CCSD

International audience

Refining NGS diagnosis of muscular disorders

Archive ouverte | Cerino, Mathieu | CCSD

International audience. In our original publication by Sevy et al,1 we described a cohort of patients affected with distal myopathy analysed by a large gene panel approach. Given the rapid evolution of genomic diagn...

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