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A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus
A 60‐year‐old man is presented with progressive involuntary muscle movements and neuropsychiatric symptoms who developed a variety of additional complaints over 2 years. Brain imaging revealed bilateral basal ganglia calcifications suggesting primary familial brain calcification. Analysis of the SLC...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414494/ https://www.ncbi.nlm.nih.gov/pubmed/30911583 http://dx.doi.org/10.1002/acn3.702 |