title: [Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy].
abstract: DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.
authors.affiliation: Zakładu Genetyki, Instytutu Psychiatrii i Neurologii, Warszawie.
authors.forename: J G
authors.initials: JG
authors.lastname: Zimowski
authors.forename: M
authors.initials: M
authors.lastname: Bisko
authors.forename: E
authors.initials: E
authors.lastname: Fidziańska
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
authors.forename: B
authors.initials: B
authors.lastname: Badurska
authors.forename: J
authors.initials: J
authors.lastname: Borkowska
authors.forename: A
authors.initials: A
authors.lastname: Lusakowska
authors.forename: A
authors.initials: A
authors.lastname: Fidziańska
authors.forename: J
authors.initials: J
authors.lastname: Jezuita
authors.forename: J
authors.initials: J
authors.lastname: Zaremba
mesh_terms: D002891:Chromosomes, Human, Pair 21; D016189:Dystrophin / Q000235:genetics* / Q000302:isolation & purification; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D011296:Prenatal Diagnosis; D014960:X Chromosome
chemical_list: D016189:Dystrophin
vernacular_title: Wystepowanie delecji w obrebie genu dystrofiny w dystrofii mieśniowej typu Duchenne'a i Backera.