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Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry

Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to the milder Becker muscular dystrophy (BMD). However, this reading frame rule does not always hold true. Therefore, an u...

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Détails bibliographiques
Publié dans:J Pers Med
Auteurs principaux: Lim, Kenji Rowel Q., Nguyen, Quynh, Yokota, Toshifumi
Format: Artigo
Langue:Inglês
Publié: MDPI 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7712074/
https://ncbi.nlm.nih.gov/pubmed/33238405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jpm10040241
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