Morais, MaraGonçalves, AnaMota, SandraAmorim, Manuela2021-12-062021-12-062019-05-17Morais, M., Gonçalves, A., Mota, S., & Amorim, M. M. (2019). Screening of pathogenic variants of the DMD gene in female patients with undetermined muscular dystrophy. 4th Meeting of Medicinal Biotechnology, 23.http://hdl.handle.net/10400.22/18997Dystrophinopathy (Duchenne/Becker muscular dystrophy, DMD/BMD), a progressive neuromuscular disease with an X-linked recessive inheritance, is caused by pathogenic variants in the DMD gene, including large deletions (68%), duplications (11%), point variants (20%) and others. Although the majority of females heterozygous for these variants are asymptomatic, about 2.5-7.8% may have some symptom manifestations.engDuchenne Becker muscular dystrophySymptomatic female carriersDMD geneX-chromosome inactivationconference object