Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. The genetic diagnosis is not easily made because of the large size of the dystrophin gene, complex mutational spectrum and high number of tests patients undergo for diagnosis. Multiplex ligation-d...

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Detalles Bibliográficos
Publicado en:J Hum Genet
Main Authors: Okubo, Mariko, Minami, Narihiro, Goto, Kanako, Goto, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Nishino, Ichizo
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
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Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4931045/
https://ncbi.nlm.nih.gov/pubmed/26911353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2016.7
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