title: Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.
abstract: Both Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS) are unusual genetic syndromes consisting of congenital 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 microsatellites flanking the FCMD locus on chromosome 9q31-33. The results suggested 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.
authors: Department of Human Genetics, School of International Health, University of Tokyo, Japan.
authors: T
authors: T
authors: Toda
authors: M
authors: M
authors: Yoshioka
authors: Y
authors: Y
authors: Nakahori
authors: I
authors: I
authors: Kanazawa
authors: Y
authors: Y
authors: Nakamura
authors: Y
authors: Y
authors: Nakagome
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005124:Eye Abnormalities / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D004247:DNA