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

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

Abstract Background GLE1 (GLE1, RNA Export Mediator, OMIM#603371) variants are associated with severe autosomal recessive motor neuron diseases, that are lethal congenital contracture syndrome 1 (LCCS1, OMIM#253310) and congenital arthrogryposis with anterior horn cell disease (CAAHD, OMIM#611890)....

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Bibliographic Details
Main Authors: Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
congenital
GLE1
mild
mutation
myopathy
NGS
Online Access:https://doi.org/10.1002/mgg3.1277

Internet

https://doi.org/10.1002/mgg3.1277

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