| Literature DB >> 9736061 |
F Rivier1, S Tuffery, A J Jellali, B Echenne, D Mornet, F Pons.
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.Entities:
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Year: 1998 PMID： 9736061 DOI： 10.1002/(sici)1097-4598(199810)21:10<1317::aid-mus11>3.0.co;2-z
Source DB: PubMed Journal: Muscle Nerve ISSN： 0148-639X Impact factor: 3.217