title: Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy.
abstract: Three Chinese patients, two boys and one girl, were afflicted with the typical clinical, myopathological and neuroradiological findings of Fukuyama congenital muscular dystrophy (FCMD). Polymorphism analysis of our patients did not reveal the founder haplotype (138-192-147-183 in D9S2105-D9S2170-D9S2171-D9S2107) of Japanese FCMD, even though one patient was descended from Japanese ancestry. Full mutational analysis of the fukutin gene revealed that there is neither 3 kb insertion nor point mutation. These findings suggest genetic heterogeneity between Chinese and Japanese FCMD patients.
authors.affiliation: Department of Pediatrics, Kaohsiung Medical University, Taiwan. yjjong@mail.ht.net.tw
authors.forename: Y J
authors.initials: YJ
authors.lastname: Jong
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: T
authors.initials: T
authors.lastname: Toda
authors.forename: E
authors.initials: E
authors.lastname: Kondo
authors.forename: S C
authors.initials: SC
authors.lastname: Huang
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Shen
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuyama
mesh_terms: D002648:Child; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D013624:Taiwan