Premium
Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy
Author(s) -
Rivier François,
Tuffery Sylvie,
Jellali Abdel Jellil,
Echenne Bernard,
Mornet Dominique,
Pons Françoise
Publication year - 1998
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199810)21:10<1317::aid-mus11>3.0.co;2-z
Subject(s) - muscular dystrophy , dystrophin , sarcolemma , biology , western blot , microbiology and biotechnology , phenotype , gene , genetics , myocyte
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 α‐sarcoglycan and β‐dystroglycan staining patterns. DNA and RNA analysis did not reveal any mutation in the dystrophin gene, and the karyotype was normal. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21:1317–1320, 1998.