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

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

Abstract 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...

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Bibliographic Details
Main Authors: Ichraf Kraoua, Adnane Karkar, Cyrine Drissi, Hanene Benrhouma, Hedia Klaa, Simon Samaan, Florence Renaldo, Monique Elmaleh, Mohamed Ben Hamouda, Sonia Abdelhak, Odile Boespflug‐Tanguy, Ilfghem Ben Youssef‐Turki, Imen Dorboz
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
dystonia
hypomyelination
leukodystrophy
myoclonus
POLR1C
Online Access:https://doi.org/10.1002/mgg3.914

Internet

https://doi.org/10.1002/mgg3.914

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