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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2018
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| Materias: | |
| 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 |