Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clin...

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Detalles Bibliográficos
Autores principales: Bajek, Agnieszka, Przewodowska, Dominika, Koziorowski, Dariusz, Jędrzejowska, Maria, Szlufik, Stanisław
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10556495/
https://www.ncbi.nlm.nih.gov/pubmed/37808486
http://dx.doi.org/10.3389/fneur.2023.1243535

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10556495/
https://www.ncbi.nlm.nih.gov/pubmed/37808486
http://dx.doi.org/10.3389/fneur.2023.1243535

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