Article
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Brain : a journal of neurology - 1 Sept 2015
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
Abstract excerpt
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 disorders. A clinically similar phenotype caused by recessive mutations in GJC2 is known as Pelizaeus-Merzbacher-like...
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