Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia

INTRODUCTION: RNA polymerase III (Pol III)‐related leukodystrophies are a group of autosomal recessive neurodegenerative disorders caused by mutations in POLR3A and POLR3B. Recently a recessive mutation in POLR1C causative of Pol III‐related leukodystrophies was identified. METHODS: We report the ca...

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Publicado en:Mol Genet Genomic Med
Autores principales: Kraoua, Ichraf, Karkar, Adnane, Drissi, Cyrine, Benrhouma, Hanene, Klaa, Hedia, Samaan, Simon, Renaldo, Florence, Elmaleh, Monique, Ben Hamouda, Mohamed, Abdelhak, Sonia, Boespflug‐Tanguy, Odile, Ben Youssef‐Turki, Ilfghem, Dorboz, Imen
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732337/
https://ncbi.nlm.nih.gov/pubmed/31368241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.914
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