Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy
Corresponding Author
François Rivier MD
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, France
Service de Neuropédiatrie, Hôpital Saint-Eloi, 2 Av Bertin Sans, 34295 Montpellier Cedex 5, France
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, FranceSearch for more papers by this authorSylvie Tuffery PhD
Laboratoire de Biochimie Génétique, Institut de Biologie, 4 Bd Henri IV, 34060 Montpellier Cedex, France
Search for more papers by this authorAbdel Jellil Jellali PhD
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, France
Search for more papers by this authorBernard Echenne MD
Service de Neuropédiatrie, Hôpital Saint-Eloi, 2 Av Bertin Sans, 34295 Montpellier Cedex 5, France
Search for more papers by this authorDominique Mornet DSc
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, France
Search for more papers by this authorFrançoise Pons PhD
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, France
Search for more papers by this authorCorresponding Author
François Rivier MD
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, France
Service de Neuropédiatrie, Hôpital Saint-Eloi, 2 Av Bertin Sans, 34295 Montpellier Cedex 5, France
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, FranceSearch for more papers by this authorSylvie Tuffery PhD
Laboratoire de Biochimie Génétique, Institut de Biologie, 4 Bd Henri IV, 34060 Montpellier Cedex, France
Search for more papers by this authorAbdel Jellil Jellali PhD
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, France
Search for more papers by this authorBernard Echenne MD
Service de Neuropédiatrie, Hôpital Saint-Eloi, 2 Av Bertin Sans, 34295 Montpellier Cedex 5, France
Search for more papers by this authorDominique Mornet DSc
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, France
Search for more papers by this authorFrançoise Pons PhD
Pathologie Moléculaire du Muscle, INSERM U300, Faculté de Pharmacie, Av. Charles Flahault, 34060 Montpellier Cedex 1, France
Search for more papers by this authorAbstract
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.
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