title: Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy.
abstract: We report the molecular diagnosis of Duchenne muscular dystrophy (DMD) in an extended pedigree by use of a conformational polymorphism detected by the SSCP method, which allowed direct prenatal diagnosis and carrier detection while no DNA from an affected boy was available.
authors.affiliation: Laboratoire de Biochimie Génétique, CNRS UPR 9008/CRBM U249 INSERM, Institut de Biologie, Montpellier, France.
authors.forename: S
authors.initials: S
authors.lastname: Tuffery
authors.forename: P
authors.initials: P
authors.lastname: Moine
authors.forename: P
authors.initials: P
authors.lastname: Sarda
authors.forename: G
authors.initials: G
authors.lastname: Lefort
authors.forename: P
authors.initials: P
authors.lastname: Boulot
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D015193:Chorionic Villi Sampling; D004247:DNA / Q000235:genetics*; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011487:Protein Conformation
chemical_list: D016189:Dystrophin; D004247:DNA