A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

BACKGROUND: Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group of clinically overlapping hypomyelinating leukodystrophies (HL) has been assoc...

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Pubblicato in:BMC Neurol
Autori principali: Campopiano, Rosa, Ferese, Rosangela, Zampatti, Stefania, Giardina, Emiliano, Biagioni, Francesca, Colonnese, Claudio, Centonze, Diego, Storto, Marianna, Buttari, Fabio, Fraviga, Edoardo, Broccoli, Vania, Fanelli, Mirco, Fornai, Francesco, Gambardella, Stefano
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7322863/
https://ncbi.nlm.nih.gov/pubmed/32600288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-020-01835-9
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