title: Congenital myotonic dystrophy transmitted from an asymptomatic father with a DM-specific gene.
abstract: We present the first report of paternal transmission of congenital myotonic dystrophy (DM). The patients had typical congenital DM and showed unstable CTG repeats on Southern blot analysis. The mother had no expansion of the DM gene, but the asymptomatic father had minimal expansion of the CTG repeats.
authors.affiliation: Department of Pediatrics, Sapporo Medical University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Ohya
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: S
authors.initials: S
authors.lastname: Chiba
authors.forename: T
authors.initials: T
authors.lastname: Sato
authors.forename: S
authors.initials: S
authors.lastname: Kon
authors.forename: K
authors.initials: K
authors.lastname: Kikuchi
authors.forename: S
authors.initials: S
authors.lastname: Imamura
authors.forename: H
authors.initials: H
authors.lastname: Yamagata
authors.forename: T
authors.initials: T
authors.lastname: Miki
mesh_terms: D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005220:Fathers; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000151:congenital* / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA