title: A Japanese family with two types of muscular dystrophy: DNA analysis and the dystrophin test.
abstract: A unique Japanese family with both Fukuyama type congenital muscular dystrophy (FCMD) and Duchenne muscular dystrophy (DMD) is described. Four boys, all from the sixth generation of the same family, were afflicted with severe neuromuscular diseases beginning in early life, three of them presenting the typical phenotype of FCMD and one, that of DMD. Although DNA analysis by Southern blotting with complementary DNAs representing the whole of the dystrophin coding sequence detected neither gross deletions nor duplications, immunohistochemistry and Western blotting of the biopsied skeletal muscle with an antidystrophin monoclonal antibody (dystrophin test) showed that the approximately 400-kd dystrophin was expressed normally at the sarcoplasmic membrane of the FCMD phenotype patient but was completely absent in the DMD phenotype patient. From these results, it was presumed that two different childhood muscular dystrophies, FCMD and DMD, coexisted in this family. This unique case illustrates the efficacy of the dystrophin test in the differential diagnosis of the two diseases even when conventional means of diagnosis do not give definite answers and DNA analysis of the dystrophin gene is not informative.
authors.affiliation: Department of Neurology, Shimoshizu National Hospital, Chiba, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Matsumura
authors.forename: T
authors.initials: T
authors.lastname: Toda
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: M
authors.initials: M
authors.lastname: Kamei
authors.forename: N
authors.initials: N
authors.lastname: Imoto
authors.forename: T
authors.initials: T
authors.lastname: Shimizu
mesh_terms: D015139:Blotting, Southern; D004247:DNA / Q000032:analysis*; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D005190:Family; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D016189:Dystrophin; D004247:DNA