Marinesco-Sjogren Syndrome

About the Disease
Marinesco-Sjogren Syndrome, also known as marinesco-sj枚gren syndrome, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1, and has symptoms including cerebellar ataxia, muscle spasticity and gait ataxia. An important gene associated with Marinesco-Sjogren Syndrome is SIL1 (SIL1 Nucleotide Exchange Factor), and among its related pathways/superpathways are "Antigen Presentation: Folding, assembly and peptide loading of class I MHC" and Photodynamic therapy-induced unfolded protein response. Affiliated tissues include eye, skeletal muscle and testis, and related phenotypes are intellectual disability and ataxia

Common Targets
SIL1 | PLP1 | STUB1 | GBA2

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