Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

OBJECTIVE: To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants. METHODS: A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical and molecular...

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Veröffentlicht in:Neurol Genet
Hauptverfasser: Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., Bernard, Geneviève
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wolters Kluwer 2019
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6927361/
https://ncbi.nlm.nih.gov/pubmed/32042905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000369
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