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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Detalles Bibliográficos
Autores principales: Gatz, Christian, Hathazi, Denisa, Münchberg, Ute, Buchkremer, Stephan, Labisch, Thomas, Munro, Ben, Horvath, Rita, Töpf, Ana, Weis, Joachim, Roos, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587064/
https://www.ncbi.nlm.nih.gov/pubmed/31258504
http://dx.doi.org/10.3389/fneur.2019.00562

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