A novel remitting leukodystrophy associated with a variant in FBP2

Leukodystrophies are genetic disorders of cerebral white matter that almost exclusively have a progressive disease course. We became aware of three members of a family with a disorder characterized by a sudden loss of all previously acquired abilities around 1 year of age followed by almost complete...

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Detalles Bibliográficos
Autores principales: Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wiśniewski, Janusz, Duda, Przemysław, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Höhne, Wolfgang, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Rakus, Dariusz, Gärtner, Jutta, Huppke, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097510/
https://www.ncbi.nlm.nih.gov/pubmed/33977262
http://dx.doi.org/10.1093/braincomms/fcab036

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097510/
https://www.ncbi.nlm.nih.gov/pubmed/33977262
http://dx.doi.org/10.1093/braincomms/fcab036

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