Article
Genetic profile of Brazilian patients with dystrophinopathies.
Clinical genetics - 1 Aug 2017
de Almeida P A D, Machado-Costa M C, Manzoli G N, Ferreira L S, Rodrigues M C S, Bueno L S M, Saute J A M, Pinto Vairo F, Matte U S, Siebert M, Cossio S L, Macedo G S, Winckler P B, Becker M M, Magalhães L V B, Gonçalves M V M, Marrone C D, Nucci A, França M C
Abstract excerpt
Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about DMD/BMD genetic profile in Brazil. Hence, we recruited patients with DMD and BMD from 8 neuromuscular reference centers along the country, and performed a...
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