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Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies

Becker muscular dystrophy is caused by mutations in the DMD gene that permit significant residual dystrophin protein expression in patient muscle. This is in contrast to DMD gene mutations in Duchenne muscular dystrophy where little or no dystrophin is produced (typically < 3% normal levels). Cli...

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Detalhes bibliográficos
Publicado no:Acta Myol
Autor principal: Hoffman, Eric P.
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore Srl 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7783439/
https://ncbi.nlm.nih.gov/pubmed/33458572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.36185/2532-1900-020
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