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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Neurol
Egile Nagusiak: Tonin, Rodolfo, Catarzi, Serena, Caciotti, Anna, Procopio, Elena, Marini, Carla, Guerrini, Renzo, Morrone, Amelia
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Berlin Heidelberg 2018
Gaiak:
Original Communication
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6342868/
https://ncbi.nlm.nih.gov/pubmed/30382391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-018-9084-4
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