A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea

Background: We investigated a family that presented with an infantile‐onset chorea‐predominant movement disorder, negative for NKX2‐1, ADCY5, and PDE10A mutations. Methods: Phenotypic characterization and trio whole‐exome sequencing was carried out in the family. Results: We identified a homozygous...

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Detalles Bibliográficos
Autores principales: Salpietro, Vincenzo, Perez‐Dueñas, Belen, Nakashima, Kosuke, San Antonio‐Arce, Victoria, Manole, Andreea, Efthymiou, Stephanie, Vandrovcova, Jana, Bettencourt, Conceicao, Mencacci, Niccolò E., Klein, Christine, Kelly, Michy P., Davies, Ceri H., Kimura, Haruhide, Macaya, Alfons, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873427/
https://www.ncbi.nlm.nih.gov/pubmed/29392776
http://dx.doi.org/10.1002/mds.27286

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873427/
https://www.ncbi.nlm.nih.gov/pubmed/29392776
http://dx.doi.org/10.1002/mds.27286

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