Browsing by Author "Morais, Mara"
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- Screening of pathogenic variants of the DMD gene in female patients with undetermined muscular dystrophyPublication . Morais, Mara; Gonçalves, Ana; Mota, Sandra; Amorim, ManuelaDystrophinopathy (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.