UNASSIGNED: Different types of mutations in the @entity1555 gene underlie @entity1555 ( @entity1555 ) and @entity1555 ( @entity1555 ). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about @entity1555 / @entity1555 genetic profile in Brazil. Hence, we recruited @entity1 with @entity1555 and @entity1555 from 8 neuromuscular reference centers along the country, and performed a comprehensive molecular investigation that included Multiplex Ligation-dependent Probe Amplification and Next generation sequencing (NGS) analyses. We evaluated 199 @entity1 from 177 unrelated families: 166 with @entity1555 , 32 with @entity1555 and 1 1.5   years old asymptomatic @entity1 with persistent hiperCKemia. Overall, large deletions (58.2%) followed by nonsense mutations (12.4%) and large duplications (11.3%) were the most frequent variants in Brazilian families. Large deletions were less frequent in @entity1555 than in @entity1555 (44.8% vs 60.8%). We identified 19 new @entity1555 variants. Nonsense mutations were significantly more frequent in @entity1 from northeastern region than from southern/southeastern regions of Brazil (27.7% vs 8.5%, P   <   .05). Genetic profile of Brazilian @entity1 with @entity1555 / @entity1555 is similar to previously reported cohorts, but it is not uniform across the country. This information is important to plan rational clinical care for @entity1 in face of the new coming mutation-specific therapies.

Genetic profile of Brazilian XXXX with dystrophinopathies.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity1555 :: ('MESH:D020388', 'Disease') :: ['Becker muscular dystrophies', 'BMD', 'Duchenne muscular dystrophies', 'DMD']
@entity1 :: (9606,Species) :: ['patients']
