Article
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Molecular genetics & genomic medicine - 1 Aug 2020
Cerino Mathieu, Di Meglio Chloé, Albertini Francesca, Audic Frédérique, Riccardi Florence, Boulay Christophe, Philip Nicole, Bartoli Marc, Lévy Nicolas, Krahn Martin, Chabrol Brigitte
Abstract excerpt
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). The clinical spectrum of GLE1-related disorders has been expanding these past years, including with adult-onset amyotrophic...
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