Identification of a Novel Missense Mutation of <i>POLR3A</i> Gene in a Cohort of Sicilian Patients with Leukodystrophy

Identification of a Novel Missense Mutation of <i>POLR3A</i> Gene in a Cohort of Sicilian Patients with Leukodystrophy

Recessive mutations in the <i>POLR3A</i> gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 <i>POLR3A</i> (NM_007055.3) missen...

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Bibliographic Details
Main Authors: Antonino Musumeci, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Greta Amore, Salvatore Saccone, Gabriella Di Rosa, Antonio Gennaro Nicotera
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Biomedicines
Subjects:
hypomyelination
leukodystrophy
missense mutation
neurodegenerative disorder
POLR3A
Online Access:https://www.mdpi.com/2227-9059/10/9/2276

Internet

https://www.mdpi.com/2227-9059/10/9/2276

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