[Separation of dystrophinopathies from the group previously classified as limb-girdle muscular dystrophies].
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.
Kozłowska
M
M
Zespołu Badawczo-Leczniczego Chorób Nerwowo-Mieśniowych CMDiK PAN, Warszawie.
Bushby
K
K
Bisko
M
M
Zimowski
J
J
Badurska
B
B
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
D000911:Antibodies, Monoclonal; D004247:DNA
Wyodrebnienie dystrofinopatii z grupy dystrofii rozpoznawanych jako obreczowo-kończynowe.