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

ConclusionThe clinical and imaging findings of patients withPOLR1C hypomyelinating leukodystrophy are reviewed. Interestingly, severe myoclonic dystonia and T2 hypointensity of the substantia nigra and the subthalamic nucleus are not reported yet and could be helpful for the diagnosis ofPOLR1C hypomyelinating leukodystrophy.

Source: Molecular Genetics & Genomic Medicine - July 30, 2019 Category: Genetics & Stem Cells 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 Tags: ORIGINAL ARTICLE Source Type: research