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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Detalles Bibliográficos
Autores principales: Moore, Rebecca S, Tirupathi, Sandya, Herron, Brian, Sands, Andrew, Morrison, Patrick J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Ulster Medical Society 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849976/
https://www.ncbi.nlm.nih.gov/pubmed/29581631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849976/
https://www.ncbi.nlm.nih.gov/pubmed/29581631

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