Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is one of the most variable monogenic diseases at phenotypic, genetic, and epigenetic level. The disease is multi-systemic with the age at onset ranging from birth to late age. The underlying mutation is an unstable expansion of CTG repeats in the DMPK gene, varying i...

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Detalles Bibliográficos
Autores principales: Peric, Stojan, Pesovic, Jovan, Savic-Pavicevic, Dusanka, Rakocevic Stojanovic, Vidosava, Meola, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8745394/
https://www.ncbi.nlm.nih.gov/pubmed/35008780
http://dx.doi.org/10.3390/ijms23010354

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8745394/
https://www.ncbi.nlm.nih.gov/pubmed/35008780
http://dx.doi.org/10.3390/ijms23010354

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