Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy.
A boy with a Becker muscular dystrophy (BMD) phenotype presented unique muscular dystrophin expression. Western blot analysis showed the presence of two dystrophins of different sizes, i.e., a 400-kDa dystrophin and a 500-kDa form. An immunofluorescent study revealed mosaic expression of these dystrophins in the sarcolemma, with matching alpha-sarcoglycan and beta-dystroglycan staining patterns. DNA and RNA analysis did not reveal any mutation in the dystrophin gene, and the karyotype was normal.
Rivier
F
F
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Montpellier, France.
Tuffery
S
S
Jellali
A J
AJ
Echenne
B
B
Mornet
D
D
Pons
F
F
D000911:Antibodies, Monoclonal / Q000276:immunology; D015153:Blotting, Western; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000378:metabolism; D018450:Disease Progression; D049030:Dystroglycans; D016189:Dystrophin / Q000737:chemistry / Q000276:immunology / Q000378:metabolism*; D005455:Fluorescent Antibody Technique; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000378:metabolism; D008970:Molecular Weight; D009030:Mosaicism / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D012016:Reference Values; D049031:Sarcoglycans; D012508:Sarcolemma / Q000378:metabolism
D000911:Antibodies, Monoclonal; D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D049030:Dystroglycans