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Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases

3 May 2022

Abstract excerpt

Repeat diseases, such as fragile X syndrome, myotonic dystrophy, Friedreich ataxia, Huntington disease, spinocerebellar ataxias, and some forms of amyotrophic lateral sclerosis, are caused by repetitive DNA sequences that are expanded in affected individuals. The age at which an individual begins to experience symptoms, and the severity of disease, are partially determined by the size of the repeat. However, the...

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PMID: 35592702
DOI: 10.3389/fnagi.2022.750629

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