GENETIC IDENTITY OF FUKUYAMA-TYPE CONGENITAL MUSCULAR-DYSTROPHY AND WALKER-WARBURG SYNDROME

Both Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-War burg syndrome (WWS) are unusual generic syndromes consisting of congen ital muscular dystrophy and complex malformations of the brain and eye . It has been intensively discussed whether FCMD and WWS belong to the same disease entity or not. We analyzed a family in which 3 siblings were affected with either FCMD or WWS by using polymorphic microsatell ites flanking the FCMD locus on chromosome 3q31-33 The results suggest ed that both FCMD and WWS siblings shared the identical combination of mutations on either allele of the FCMD locus. FCMD and WWS could be ' 'genetically identical.