Dystrophin and nebulin in the muscular dystrophies.
Skeletal muscle from patients with 5 different forms of muscular dystrophy and from 6 fetuses at high risk (95%) for Duchenne muscular dystrophy (DMD) were probed with specific antibodies for the presence of dystrophin and nebulin. Dystrophin was absent in all 5 patients with DMD and 4 of 6 fetuses at high risk for DMD and present in trace amounts in the remaining two. Dystrophin was also undetectable in one borderline DMD/Becker muscular dystrophy (BMD) case and reduced in 2 of 4 cases of BMD. In contrast, dystrophin was present in all 16 biopsies from 4 other types of muscular dystrophy (congenital, limb girdle, Emery-Dreifuss and facioscapulohumeral). Nebulin profiles varied with the type, severity and duration of the dystrophic process. Nebulin was present in 5 of 6 DMD fetal samples but vastly reduced or absent in all samples of clinically manifest DMD.
Patel
K
K
Jerry Lewis Muscle Research Centre, Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, U.K.
Voit
T
T
Dunn
M J
MJ
Strong
P N
PN
Dubowitz
V
V
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin; D005333:Fetus / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000378:metabolism* / Q000473:pathology
D016189:Dystrophin; D009124:Muscle Proteins; C035620:nebulin