A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy

A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy

Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic combination of clinical signs, brain magnetic res...

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Bibliographic Details
Main Authors: Hakim Si Ahmed, Ouardia Belarbi, Smail Daoudi, Pierre Labauge, Clarisse Carra-Dalliere, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, Hélène Cavé
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2022-06-01
Series:Romanian Journal of Neurology
Subjects:
polr3a-related leukodystrophy
ataxo-spasmodic hypomyelinating leukodystrophy
genetics
new mutation variant c.3892-5c > t
Online Access:https://rjn.com.ro/articles/2022.2/RJN_2022_2_Art-04.pdf

Internet

https://rjn.com.ro/articles/2022.2/RJN_2022_2_Art-04.pdf

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