De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Claudin-11, a tight junction protein, is indispensable in the formation of the radial component of myelin. Here, we report de novo stop-loss variants in the gene encoding claudin-11, CLDN11, in three unrelated individuals presenting with an early-onset spastic movement disorder, expressive speech di...

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Publicado en:Brain
Main Authors: Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica, Murcia Pienkowski, Victor, Pollak, Agnieszka, Szymanska, Krystyna, Tarailo-Graovac, Maja, van der Lee, Robin, van Karnebeek, Clara D, Meitinger, Thomas, Krägeloh-Mann, Ingeborg, Vill, Katharina
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2020
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Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940174/
https://ncbi.nlm.nih.gov/pubmed/33313762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa410
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