title: Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe.
abstract: A 31-year-old man previously investigated for a neuromuscular disorder was diagnosed as having either limb-girdle dystrophy, spinal muscular atrophy, or Becker muscular dystrophy. Extensive clinical and special neurological investigations failed to clarify this differential diagnosis. However, recent DNA studies have shown a deletion of the dystrophin gene, thereby providing an unequivocal diagnosis of Becker muscular dystrophy. The application of molecular genetic techniques in the diagnosis of inherited neuromuscular disorders is discussed.
authors: Department of Neuropathology, Royal Perth Hospital, Perth, WA.
authors: N G
authors: NG
authors: Laing
authors: M E
authors: ME
authors: Mears
authors: H E
authors: HE
authors: Thomas
authors: D C
authors: DC
authors: Chandler
authors: M G
authors: MG
authors: Layton
authors: J
authors: J
authors: Goldblatt
authors: B A
authors: BA
authors: Kakulas
mesh_terms: D000328:Adult; D001345:Autoradiography; D002872:Chromosome Deletion; D015342:DNA Probes; D004274:DNA, Recombinant / Q000032:analysis; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004274:DNA, Recombinant