Leigh B Waddell, Samantha J Bryen, Beryl B Cummings, Adam Bournazos, Frances J Evesson, Himanshu Joshi, Jamie L Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R Davis, Fathimath Faiz, Rebecca Gooding, Sarah A Sandaradura, Gina L O'Grady, Michel C Tchan, David R Mowat, Emily C Oates, Michelle A Farrar, Hugo Sampaio, Alan Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N Kenwright, Nicole Graf, Susan Arbuckle, Nigel F Clarke, Daniel G MacArthur, Kristi J Jones, Monkol Lek, Sandra T Cooper
Objective: To describe the diagnostic utility of whole-genome sequencing and RNA studies in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe amplification and exomic parallel sequencing failed to yield a genetic diagnosis, and to use remnant normal DMD splicing in 3 families to define critical levels of wild-type dystrophin bridging clinical spectrums of Duchenne to myalgia. Methods: Exome, genome, and/or muscle RNA sequencing was performed for 7 males with elevated creatine kinase...
February 2021: Neurology. Genetics