title: Duchenne muscular dystrophy in a girl identified by dystrophin deficiency.
abstract: We report an isolated case of a girl aged three years six months with Duchenne muscular dystrophy. Analysis of the patient's DNA with a probe covering the DNA gene revealed no deletion. Dystrophin, studied in biopsied muscle from the patient, using antidystrophin antibody in combination with immunofluorescence, was nearly completely absent. In this sporadic case of female muscular dystrophy, the identification of dystrophin-deficient muscle fibers made it possible to establish an accurate diagnosis of DMD affected female.
authors.affiliation: Division of Pediatric Neurology, Schneider Children's Hospital, Long Island Jewish Medical Center, New Hyde Park, NY 11040.
authors.forename: J
authors.initials: J
authors.lastname: Maytal
authors.forename: A L
authors.initials: AL
authors.lastname: Shanske
authors.forename: J E
authors.initials: JE
authors.lastname: Fox
authors.forename: S
authors.initials: S
authors.lastname: Lipper
authors.forename: L
authors.initials: L
authors.lastname: Eviatar
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D015342:DNA Probes; D016189:Dystrophin / Q000172:deficiency*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D016189:Dystrophin