For example, early cataracts, cerebellar atrophy, and variable intellectual disability suggest Marinesco-Sjögren syndrome (MSS [MIM: 248800]), which also features characteristic ultrastructural muscle pathology (dense perinuclear membranous structures).2, 3, 4 Most CMDs are inherited in an autosomal-recessive manner with the exception of de novo dominant inheritance in CMDs caused by LMNA mutations (MIM: 613205) and some cases of Ullrich CMD (MIM: 254090). The gene discussed is LMNA; the disease is Marinesco-Sjogren syndrome.