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Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.

Zhong, Jingzi; Xu, Tiantian; Chen, Gang; Liao, Haixia; Zhang, Jiapeng; Lan, Dan.
Muscle Nerve; 56(1): 117-121, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-27750387


Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked myopathies caused by mutations of the dystrophin gene.


Multiplex ligation-dependent probe amplification (MLPA) combined with next-generation sequencing (NGS) of the exons of the dystrophin gene were performed in 92 suspected DMD/BMD patients. Patients with negative results were subjected to additional muscle diseases panel tests.


DNA rearrangements were detected in 65 (70.65%) patients using MLPA. The deletions primarily clustered at exons 45-55, followed by exons 2-19. The duplication locations were in contrast to previous studies, which involved the 3' end of the gene. A total of 21 cases with point mutations were detected by NGS analysis. Furthermore, 6 previously unreported mutations were detected. Limb-girdle muscular dystrophy was confirmed in 2 patients after analysis with the muscle diseases panel.


MLPA combined with NGS was effective for detection of the mutations in dystrophin gene exons. Muscle Nerve 56: 117-121, 2017.
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