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Diffuse hypomyelination is not obligate for POLR3-related disorders

DOI

75

Citations

19

References

2016

Year

Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran, Kether Guerrero, Rosalina van Spaendonk, Katrin Õunap, Sander Pajusalu, Tobias B. Haack, Evangeline Wassmer, Dagmar Timmann,
Neurology

Abstract

Diffuse hypomyelination is not an obligatory feature of POLR3-related disorders. Two distinct patterns, selective involvement of the corticospinal tracts and cerebellar atrophy, are added to the MRI presentation of POLR3-related disorders.

References

YearCitations

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