Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families

ABSTRACT Background POLIII‐related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and radiological phenotype. No Tunisian studies have been published about POLIII‐related leukodystrophy due to POLR3A variants. The aim of this study was to...

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Detalhes bibliográficos

Principais autores:	Ichraf Kraoua, Maha Jamoussi, Cyrine Drissi, Lilia Kraoua, Séverine Drunat, Hanene Benrhouma, Thouraya Ben Younes, Sonia Nagi, Sonia Abdelhak, Odile Boespflug Tanguy, Ilhem Ben Youssef‐Turki, Mediha Trabelsi, Imen Dorboz
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2024-10-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	ataxia hypomyelination MRI POLR3A gene
Acesso em linha:	https://doi.org/10.1002/mgg3.70007
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