Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP1. It presents in infancy with nystagmus, jerky head movements, hypotonia and developmental delay evolving into spastic tetraplegia with optic atrophy and variable movement disorder...

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Vydáno v:Brain
Hlavní autoři: Lossos, Alexander, Elazar, Nimrod, Lerer, Israela, Schueler-Furman, Ora, Fellig, Yakov, Glick, Benjamin, Zimmerman, Bat-El, Azulay, Haim, Dotan, Shlomo, Goldberg, Sharon, Gomori, John M., Ponger, Penina, Newman, J. P., Marreed, Hodaifah, Steck, Andreas J., Schaeren-Wiemers, Nicole, Mor, Nofar, Harel, Michal, Geiger, Tamar, Eshed-Eisenbach, Yael, Meiner, Vardiella, Peles, Elior
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4643626/
https://ncbi.nlm.nih.gov/pubmed/26179919
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv204
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