title: [Separation of dystrophinopathies from the group previously classified as limb-girdle muscular dystrophies].
abstract: 54 patients from 45 families were examined one to twelve years after the hospitalization in the Department of Neurology in Warsaw in period between the years 1980 and 1992. The diagnosis of the limb-girdle muscular dystrophy (LGMD) was established, or seriously considered during the first examination. Presently verification of the diagnosis is performed on the basis of DNA analysis and muscular dystrophin assessment. In 14 cases dystrophinopathy was revealed: 13 patients with Becker muscular dystrophy (BMD) and one female manifesting carrier. This examination is of great importance for genetic counselling and for correct diagnosis of sporadic male cases and girls manifesting carriership.
authors.affiliation: Zespołu Badawczo-Leczniczego Chorób Nerwowo-Mieśniowych CMDiK PAN, Warszawie.
authors.forename: M
authors.initials: M
authors.lastname: Kozłowska
authors.forename: K
authors.initials: K
authors.lastname: Bushby
authors.forename: M
authors.initials: M
authors.lastname: Bisko
authors.forename: J
authors.initials: J
authors.lastname: Zimowski
authors.forename: B
authors.initials: B
authors.lastname: Badurska
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000911:Antibodies, Monoclonal; D002648:Child; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D004247:DNA / Q000032:analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D014960:X Chromosome
chemical_list: D000911:Antibodies, Monoclonal; D004247:DNA
vernacular_title: Wyodrebnienie dystrofinopatii z grupy dystrofii rozpoznawanych jako obreczowo-kończynowe.