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Article

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.

Human molecular genetics - 27 Dec 2021

Morales Fernando, Corrales Eyleen, Zhang Baili, Vásquez Melissa, Santamaría-Ulloa Carolina, Quesada Hazel, Sirito Mario, Estecio Marcos R, Monckton Darren G, Krahe Ralf

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between mutant CTG repeat expansion size and clinical outcome remains unclear. DM1 congenital patients (CDM) inherit the largest expanded alleles, which are associated with abnormal and increased DNA methylation flanking the CTG repeat. However, DNA methylation at the DMPK locus remains understudied. Its...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34432028
DOI: 10.1093/hmg/ddab243
PMCID: PMC8831269

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Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.PMID 34432028Read ↗

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High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1Semantic proximity Read ↗

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