Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination – hypomyelination and dysmyelination of cerebral white matter, and in some form of the disease hy...

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Bibliographic Details
Main Authors: Hanna Mierzewska, Ewa Jamroz, Tomasz Mazurczak, Dorota Hoffman-Zacharska, Elżbieta Szczepanik
Format: Article
Language:English
Published: Termedia Publishing House 2016-03-01
Series:Folia Neuropathologica
Subjects:
<i>Pelizaeus-Merzbacher disease
hypomyelination
dysmyelination
leukodystrophy
PLP1 gene mutations
MRI</i>
Online Access:https://www.termedia.pl/Pelizaeus-Merzbacher-disease-in-patients-with-molecularly-confirmed-diagnosis,20,27231,1,1.html

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https://www.termedia.pl/Pelizaeus-Merzbacher-disease-in-patients-with-molecularly-confirmed-diagnosis,20,27231,1,1.html

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