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Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy
F Rivier1, S Tuffery, A J Jellali
1Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Montpellier, France.
Muscle & Nerve
|September 15, 1998
Abstract:
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.