Marinesco-Sjogren Syndrome (MSS)

Marinesco-Sjogren Syndrome, also known as marinesco-sjögren syndrome, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4, 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 Primary ovarian insufficiency and Antigen Presentation: Folding, assembly and peptide loading of class I MHC. Affiliated tissues include eye and skeletal muscle, and related phenotypes are intellectual disability and ataxia