A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

See Zhou and Rademakers (doi:10.1093/brain/awx318) for a scientific commentary on this article. Hypomyelinating leukodystrophies are a heterogeneous group of disorders with a clinical presentation that often includes early-onset nystagmus, ataxia and spasticity and a wide range of severity. Using ne...

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Publicado en:Brain
Main Authors: Simons, Cas, Dyment, David, Bent, Stephen J, Crawford, Joanna, D’Hooghe, Marc, Kohlschütter, Alfried, Venkateswaran, Sunita, Helman, Guy, Poll-The, Bwee-Tien, Makowski, Christine C, Ito, Yoko, Kernohan, Kristin, Hartley, Taila, Waisfisz, Quinten, Taft, Ryan J, van der Knaap, Marjo S, Wolf, Nicole I
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2017
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5841038/
https://ncbi.nlm.nih.gov/pubmed/29186371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awx314
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