Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe.
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.
Laing
N G
NG
Department of Neuropathology, Royal Perth Hospital, Perth, WA.
Mears
M E
ME
Thomas
H E
HE
Chandler
D C
DC
Layton
M G
MG
Goldblatt
J
J
Kakulas
B A
BA
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*
D015342:DNA Probes; D004274:DNA, Recombinant