De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy

Pathogenic variants in SETX cause two distinct neurological diseases, a loss-of-function recessive disorder, ataxia with oculomotor apraxia type 2 (AOA2), and a dominant gain-of-function motor neuron disorder, amyotrophic lateral sclerosis type 4 (ALS4). We identified two unrelated patients with the...

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Detalles Bibliográficos
Autores principales: Hadjinicolaou, Aristides, Ngo, Kathie J., Conway, Daniel Y., Provias, John P., Baker, Steven K., Brady, Lauren I., Bennett, Craig L., La Spada, Albert R., Fogel, Brent L., Yoon, Grace
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684165/
https://www.ncbi.nlm.nih.gov/pubmed/34922620
http://dx.doi.org/10.1186/s40478-021-01277-5

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