Somatic mosaicism for Duchenne dystrophy: Evidence for genetic normalization mitigating muscle symptoms

We describe a young adult male presenting with cardiac failure necessitating cardiac transplantation 7 months after presentation. Skeletal muscle biopsy showed mosaic immunostaining for dystrophin. DNA studies showed somatic mosaicism for a nonsense mutation in the dystrophin gene (Arg2905X). The fr...

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Detalles Bibliográficos
Autores principales: Kesari, Akanchha, Neel, Robert, Wagoner, Lynne, Harmon, Brennan, Spurney, Christopher, Hoffman, Eric P
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2009
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729699/
https://www.ncbi.nlm.nih.gov/pubmed/19530190
http://dx.doi.org/10.1002/ajmg.a.32891

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729699/
https://www.ncbi.nlm.nih.gov/pubmed/19530190
http://dx.doi.org/10.1002/ajmg.a.32891

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