Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer

BACKGROUND: Patients with Gaucher Disease (GD) exhibit three phenotypes, including type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). AIM: Identifying which GBA changes represent benign polymorphisms and which may result in disease-causing mutations is ess...

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Detalles Bibliográficos
Autores principales: Tonin, Rodolfo, Catarzi, Serena, Caciotti, Anna, Procopio, Elena, Marini, Carla, Guerrini, Renzo, Morrone, Amelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342868/
https://www.ncbi.nlm.nih.gov/pubmed/30382391
http://dx.doi.org/10.1007/s00415-018-9084-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342868/
https://www.ncbi.nlm.nih.gov/pubmed/30382391
http://dx.doi.org/10.1007/s00415-018-9084-4

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