Perturbation in dystrophin-associated glycoprotein complex in a boy with Becker muscular dystrophy.
We report on a boy with a BMD phenotype presenting with a deletion of exons 45-49 in the DMD gene. Immunofluorescence and Western blot analysis of a skeletal muscle sample revealed, as expected, truncated dystrophin with loss in the central rod domain, but with an unusual severe deficiency in the sarcoglycan complex, as in severe DMD. We discuss possible neighboring between dystrophin and associated proteins within their complex organization at the muscle membrane.
Rivier
F
F
Muscles et Pathologies, INSERM U128-IFR 24, Institut Bouisson-Bertrand, Montpellier, France.
Echenne
B
B
Chaix
Y
Y
Robert
A
A
Delisle
M B
MB
Calvas
P
P
Mornet
D
D
D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism*; D005455:Fluorescent Antibody Technique; D006023:Glycoproteins / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000378:metabolism*; D010641:Phenotype
D016189:Dystrophin; D006023:Glycoproteins