Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development

Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by expansion of CTG microsatellite repeats within DMPK. The most severe form, congenital myotonic dystrophy (CDM), has symptom onset at birth due to large intergenerational repeat expansions. Despite a common mutation, CDM individua...

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Detalles Bibliográficos
Autores principales: Hale, Melissa A, Bates, Kameron, Provenzano, Marina, Johnson, Nicholas E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117163/
https://www.ncbi.nlm.nih.gov/pubmed/36222125
http://dx.doi.org/10.1093/hmg/ddac254

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