Clinical and Genetic Characterization of Manifesting Carriers of DMD Mutations

Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly in the absence of a family history of dystrophinopathy. We review the clinical and genetic features in fifteen manifesting carriers identified among 860 subjects within the United Dystrophinopathy Project, a l...

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Detalhes bibliográficos
Main Authors: Soltanzadeh, Payam, Friez, Michael J., Dunn, Diane, von Niederhausern, Andrew, Gurvich, Olga L., Swoboda, Kathryn J., Sampson, Jacinda B., Pestronk, Alan, Connolly, Anne M., Florence, Julaine M., Finkel, Richard S., Bönnemann, Carsten G., Medne, Livija, Mendell, Jerry R., Mathews, Katherine D., Wong, Brenda L., Sussman, Michael D., Zonana, Jonathan, Kovak, Karen, Gospe, Sidney M., Gappmaier, Eduard, Taylor, Laura E., Howard, Michael T., Weiss, Robert B., Flanigan, Kevin M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2944769/
https://ncbi.nlm.nih.gov/pubmed/20630757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.05.010
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