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Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype
BACKGROUND: Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype. FINDINGS: We describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping, in turn rescuing the phenotype from a seve...
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| Publicado no: | Ulster Med J |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Ulster Medical Society
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5849976/ https://ncbi.nlm.nih.gov/pubmed/29581631 |
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