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...

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Detalles Bibliográficos
Autores principales: Lamquet, Simon, Ramos, Eliana M., Legati, Andrea, Coppola, Giovanni, Hemelsoet, Dimitri, Vanakker, Olivier M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Communications
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

Internet

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

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