Large in-frame 5’ deletions in DMD associated with mild Duchenne muscular dystrophy: two case reports and a review of the literature

Duchenne muscular dystrophy is caused by mutations in the dystrophin-encoding DMD gene. While Duchenne is most commonly caused by large intragenic deletions that cause frameshift and complete loss of dystrophin expression, in-frame deletions in DMD can result in the expression of internally truncate...

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Vydáno v:Neuromuscul Disord
Hlavní autoři: Gibbs, Elizabeth M., Barthélémy, Florian, Douine, Emilie D., Hardiman, Natalie, Shieh, Perry B., Khanlou, Negar, Crosbie, Rachelle H., Nelson, Stanley F., Miceli, M. Carrie
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7092699/
https://ncbi.nlm.nih.gov/pubmed/31672265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2019.09.009
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