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Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations
OBJECTIVE: To expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation. METHODS: We performed whole-exome sequencing for identification of likely pathogenic mutations in a 9-year-old female patient with severe generaliz...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577545/ https://www.ncbi.nlm.nih.gov/pubmed/33134517 http://dx.doi.org/10.1212/NXG.0000000000000521 |