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Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically
Disrupting variants in the DMD gene are associated with Duchenne or Becker muscular dystrophy (DMD/BMD) or with hyperCKemia, all of which present very different degrees of clinical severity. The clinical phenotypes of these disorders could not be distinguished in infancy or early childhood. Accurate...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252317/ https://www.ncbi.nlm.nih.gov/pubmed/37298193 http://dx.doi.org/10.3390/ijms24119241 |