title: The diagnosis of Duchenne and Becker muscular dystrophies: two years' experience in a comprehensive carrier screening and prenatal diagnostic laboratory.
abstract: This article describes the diagnostic algorithm being used for the management of the 148 families affected by Duchenne or Becker muscular dystrophy who are known to the Molecular Neurogenetics Laboratory in the Department of Neuropathology, Royal Perth Hospital. In 60 families from whom DNA has been obtained, 41 mutations (39 deletions and two duplications) of the Duchenne muscular dystrophy gene (DMD) have been identified by means of complementary DNA (cDNA) probes. DNA-based screening has clarified the carrier status of 45 at-risk women, and 13 pregnancies have been monitored. In addition, cDNA screening of all relevant patients with autosomal recessive muscular dystrophy, spinal muscular atrophy or limb-girdle muscular dystrophy facilitated the correct diagnosis of Becker muscular dystrophy in three patients.
authors.affiliation: Department of Neuropathology, Royal Perth Hospital, WA.
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
authors.forename: M E
authors.initials: ME
authors.lastname: Mears
authors.forename: D C
authors.initials: DC
authors.lastname: Chandler
authors.forename: M G
authors.initials: MG
authors.lastname: Layton
authors.forename: H E
authors.initials: HE
authors.lastname: Thomas
authors.forename: R D
authors.initials: RD
authors.lastname: Johnsen
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
authors.forename: B A
authors.initials: BA
authors.lastname: Kakulas
mesh_terms: D000465:Algorithms; D002872:Chromosome Deletion; D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006580:Genetic Carrier Screening / Q000379:methods*; D005821:Genetic Techniques; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012306:Risk; D014960:X Chromosome / Q000648:ultrastructure
chemical_list: D015342:DNA Probes