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Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
Nonsense and frameshift mutations of the dystrophin (DMD) gene usually cause severe Duchenne muscular dystrophy (DMD). Interestingly, however, premature stop codons in exons 1 and 2 result in relatively mild Becker muscular dystrophy (BMD). Herein, we report the clinical course of a patient with a v...
Gardado en:
| Publicado en: | Hum Genome Var |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group UK
2019
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6859157/ https://ncbi.nlm.nih.gov/pubmed/31754439 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0083-5 |
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