Characterization of a rare Unverricht–Lundborg disease mutation

Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In thi...

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Detalles Bibliográficos
Autores principales: Duarte, Ana Joana, Ribeiro, Diogo, Chaves, João, Amaral, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750610/
https://www.ncbi.nlm.nih.gov/pubmed/26937413
http://dx.doi.org/10.1016/j.ymgmr.2015.07.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750610/
https://www.ncbi.nlm.nih.gov/pubmed/26937413
http://dx.doi.org/10.1016/j.ymgmr.2015.07.005

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