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Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy

✍ Scribed by François Rivier; Sylvie Tuffery; Abdel Jellil Jellali; Bernard Echenne; Dominique Mornet; Françoise Pons

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 256 KB
Volume: 21
Category: Article
ISSN: 0148-639X
DOI: 10.1002/(sici)1097-4598(199810)21:10<1317::aid-mus11>3.0.co;2-z

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✦ Synopsis

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 ␣sarcoglycan and ␤-dystroglycan staining patterns. DNA and RNA analysis did not reveal any mutation in the dystrophin gene, and the karyotype was normal.

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