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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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Enregistré dans:
Détails bibliographiques
Publié dans:Acta Myol
Auteur principal: Hoffman, Eric P.
Format: Artigo
Langue:Inglês
Publié: Pacini Editore Srl 2020
Sujets:
Accès en ligne: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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