Associated Papers
Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.
Sarvutiene J et al.
International Journal of Molecular Sciences, 2025
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2024
Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.
Toh ZY et al.
Plos One, 2016
The Dystrophin Complex: Structure, Function, and Implications for Therapy.
Gao QQ et al.
Comprehensive Physiology, 2015
A population-based study of dystrophin mutations in Canada.
Mah JK et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011
Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.
Singh SM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy.
Norwood FL et al.
Structure (london, England : 1993), 2000
Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).
Eraslan S et al.
European Journal of Human Genetics : Ejhg, 0
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