Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy

Mathieu Cerino (1, 2, 3) , Chloé Di Meglio , Francesca Albertini , Frédérique Audic , Florence Riccardi (1) , Christophe Boulay , Nicole Philip (1, 2) , Marc Bartoli (1) , Nicolas Levy (1, 2) , Martin Krahn (1, 2) , Brigitte Chabrol (2)

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
2 Département de génétique médicale [Hôpital de la Timone - APHM]
3 LA CONCEPTION - Hôpital de la Conception [CHU - APHM]

Mots clés: congenital GLE1 mild mutation myopathy NGS

Domaines: Sciences du Vivant [q-bio]; Génétique humaine; Médecine humaine et pathologie

Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, et al.. Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy. Molecular Genetics & Genomic Medicine, 2020, 8 (8), ⟨10.1002/mgg3.1277⟩. ⟨hal-03222418⟩