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Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene
Authors:Jean-Jacques Pernelle  Philippe Chafey  Jamel Chelly  Juan Pedro Wahrmann  Jean-Claude Kaplan  Fernando Tomé  Michel Fardeau
Institution:(1) Institut de Pathologie Moléculaire, INSERM U15 and U129, CHU Cochin, F-75674 Paris Cédex 14, France;(2) INSERM U153, 17, rue du Fer à moulin, Paris, France
Abstract:Summary The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product.
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