Genetically Proven Marinesco Sjogren Syndrome From India: Rare Combination Of Ataxia, Myopathy And Cataracts

Background: Marinesco-sjogren syndrome is a rare, autosomal recessive disorder characterized by cerebellar ataxia, myopathy, congenital cataracts and mental retardation. The syndrome has been mapped to chromosome 5q31, with mutations in the SIL-1 gene.