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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...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2009
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| Materias: | |
| 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 |