[Molecular biology in diagnosis and detection of deletion in Duchenne muscular dystrophy].
For the purpose of carrier identification and genetic counselling we investigated deletions of the Duchenne muscular dystrophy (DMD) gene in three families of patients with Duchenne muscular dystrophy. Using a limited number of probes of the DMD cDNA in Southern blots, we detected a deletion in only one patient. Additional methodology is necessary to warrant reliable identification of carriers and exact prenatal diagnosis.
Graninger
W
W
II. Medizinische Universitätsklinik, Wien.
Wintersberger
W
W
Meron
G
G
Smolen
J
J
Toifl
K
K
Vormittag
W
W
D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D015342:DNA Probes; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
D015342:DNA Probes
Molekularbiologische Diagnostik und Deletionsnachweis bei Duchennescher Muskeldystrophie.