Screening of pathogenic variants of the DMD gene in female patients with undetermined muscular dystrophy

Morais, Mara; Gonçalves, Ana; Mota, Sandra; Amorim, Manuela

http://hdl.handle.net/10400.22/18997

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Abstract(s)

Dystrophinopathy (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.

Keywords

Duchenne Becker muscular dystrophy Symptomatic female carriers DMD gene X-chromosome inactivation

URI

http://hdl.handle.net/10400.22/18997

Citation

Morais, 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.