Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis

BACKGROUND: Neuronal ceroid lipofuscinosis (NCL) is a hereditary lysosomal storage disease with progressive brain neurodegeneration. Mutations in ceroid lipofuscinosis neuronal protein 5 (CLN5) cause CLN5 disease, a severe condition characterized by seizures, visual failure, motor decline, and progr...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Neurol Sci
Prif Awduron: Azad, Beenish, Efthymiou, Stephanie, Sultan, Tipu, Scala, Marcello, Alvi, Javeria Raza, Neuray, Caroline, Dominik, Natalia, Gul, Asma, Houlden, Henry
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2020
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7306150/
https://ncbi.nlm.nih.gov/pubmed/32302805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2020.116826
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