Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

RNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III). Here, we describe the first reported case of POLR3-related leukody...

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Detalles Bibliográficos
Autores principales: Macintosh, Julia, Perrier, Stefanie, Pinard, Maxime, Tran, Luan T., Guerrero, Kether, Prasad, Chitra, Prasad, Asuri N., Pastinen, Tomi, Thiffault, Isabelle, Coulombe, Benoit, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616956/
https://www.ncbi.nlm.nih.gov/pubmed/37915380
http://dx.doi.org/10.3389/fneur.2023.1254140

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616956/
https://www.ncbi.nlm.nih.gov/pubmed/37915380
http://dx.doi.org/10.3389/fneur.2023.1254140

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