Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome

Background and objective: Recessive mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS), a rare neuropediatric disorder. MSS-patients typically present with congenital cataracts, intellectual disability, cerebellar ataxia and progressive vacuolar myopathy. However, atypical clinical pr...

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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: Gatz, Christian, Hathazi, Denisa, Münchberg, Ute, Buchkremer, Stephan, Labisch, Thomas, Munro, Ben, Horvath, Rita, Töpf, Ana, Weis, Joachim, Roos, Andreas
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Neurology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6587064/
https://ncbi.nlm.nih.gov/pubmed/31258504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00562
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