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Article

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.

Journal of medical genetics - 1 Jul 2011

Axford Michelle M, López-Castel Arturo, Nakamori Masayuki, Thornton Charles A, Pearson Christopher E

Abstract excerpt

BACKGROUND: Recently, curious mutations have been reported to occur within the (CTG)n repeat tract of the myotonic dystrophy type 1 (DM1) locus. For example, the repeat, long presumed to be a pure repeat sequence, has now been revealed to often contain interruption motifs in a proportion of cases with expansions. Similarly, a few de novo somatic CTG expansions have been reported to arise from non-expanded DM1...

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Source

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Identifiers

PMID: 21622935
DOI: 10.1136/jmg.2010.085944
PMCID: PMC3379714

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.PMID 21622935Read ↗

Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.Semantic proximity Read ↗

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De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.Semantic proximity Read ↗

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.Semantic proximity Read ↗

CCG interruptions are unstable and hypermethylated in DM1 patientsSemantic proximity Read ↗

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Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorderSemantic proximity Read ↗

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Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.Semantic proximity Read ↗

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