MUSCLE-EYE-BRAIN DISEASE AND FUKUYAMA TYPE CONGENITAL MUSCULAR-DYSTROPHY ARE NOT ALLELIC

Muscle-Eye-Brain disease (MEB) and Fukuyama type congenital muscular d ystrophy (FCMD) are clinically similar autosomal recessive diseases, c haracterized by congenital muscular dystrophy and severe mental retard ation, raising the possibility that they might be caused by mutations of the same gene. Recently FCMD was localized to chromosome 9q31-33 by linkage. We performed a linkage study in seven Finnish MEB families w ith 12 affected patients using markers D9S53, D9S58, D9S59 and HXB. Th e MEB phenotype was not linked to any of the markers. A multipoint lin kage analysis excluded the entire region harboring FCMD. We thus concl ude that MEB and FCMD are not allelic.