Coote, DavidDavis, Mark RCabrera, MacarenaNeedham, MerrileeLaing, Nigel GNowak, Kristen J2023-01-252023-01-252018-07Coote D, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Clinical Utility Gene Card for: Becker muscular dystrophy. Eur J Hum Genet. 2018 Jul;26(7):1065-1071.http://hdl.handle.net/10668/12165Variants in the dystrophin /DMD gene can result in Becker or Duchene muscular dystrophy (BMD and DMD, respectively, also known as 'dystrophinopathies') almost solely in male individuals as DMD is located on the X chromosome . The difference in phenotype is usually dependent on whether the variant is in frame, resulting in an internally deleted, shorter, yet partially functional dystrophin protein (BMD), or out-of-frame resulting in no dystrophin protein (DMD) [1]. However, other clinical phenotypes may arise from a DMD variant such as isolated quadriceps myopathy [2]; asymptomatic hyperCKemia [3]; myalgia , cramps and rhabdomyolysis [4]; dilated cardiomyopathy [5]; isolated cognitive impairment [6]; and symptomatic female carriers [7].enGenetic counsellingNeuromuscular diseaseDatabases, GeneticDystrophinHumansMuscular Dystrophy, Duchenneresearch article29467387Restricted AccessDistrofinaFenotipoProteínasDistrofias muscularesCromosoma XCardiomiopatía dilatadaDisfunción cognitivaEnfermedades muscularesMialgiaRabdomiólisis10.1038/s41431-017-0064-41476-5438PMC6018697https://www.nature.com/articles/s41431-017-0064-4.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018697/pdf