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The dystrophinopathies are among the most common neuromuscular conditions, and they include Duchenne and Becker muscular dystrophies. This article reviews the epidemiology, clinical manifestations, genetic cause, management, and new and emerging therapies for this condition.
This article was published in the following journal.
Name: Continuum (Minneapolis, Minn.)
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive disorders caused by mutations in the DMD gene. Emerging therapies targeting patients with specific mutations are now becoming ...
Src tyrosine kinase (TK), a redox-sensitive protein overexpressed in dystrophin-deficient muscles, can contribute to damaging signaling by phosphorylation and degradation of β-dystroglycan (β-DG). W...