Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion encompassing the PURA gene. PURA-NDD is clinically characterized by neurodevelopmental delay, learning disability, neonatal hypotonia, feed...

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Detalles Bibliográficos
Autores principales: Mroczek, Magdalena, Iyadurai, Stanley
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917016/
https://www.ncbi.nlm.nih.gov/pubmed/36768582
http://dx.doi.org/10.3390/ijms24032260

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917016/
https://www.ncbi.nlm.nih.gov/pubmed/36768582
http://dx.doi.org/10.3390/ijms24032260

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