Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

BACKGROUND: RNA polymerase III (Pol III)‐related disorders are autosomal recessive neurodegenerative disorders caused by variants in POLR3A or POLR3B. Recently, a novel phenotype of adult‐onset spastic ataxia was identified in individuals with the c.1909+22G>A POLR3A variant in compound heterozyg...

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Detalles Bibliográficos
Autores principales: Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507001/
https://www.ncbi.nlm.nih.gov/pubmed/32597037
http://dx.doi.org/10.1002/mgg3.1341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507001/
https://www.ncbi.nlm.nih.gov/pubmed/32597037
http://dx.doi.org/10.1002/mgg3.1341

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