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The Dystrophinopathies.

07:00 EST 1st December 2019 | BioPortfolio

Summary of "The Dystrophinopathies."

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.

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This article was published in the following journal.

Name: Continuum (Minneapolis, Minn.)
ISSN: 1538-6899
Pages: 1619-1639

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PubMed Articles [2 Associated PubMed Articles listed on BioPortfolio]

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy.

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 ...

Proof-of-concept validation of mechanism of action of Src tyrosine kinase inhibitors in dystrophic mdx mouse muscle: in vivo and in vitro studies.

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...

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