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Article

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.

Neurology - 27 Jan 2004

Martorell L, Gámez J, Cayuela M L, Gould F K, McAbney J P, Ashizawa T, Monckton D G, Baiget M

Abstract excerpt

BACKGROUND: The CTG repeat expansion causing myotonic dystrophy type 1 is unstable in the germline, and frequent intergenerational length changes are observed, giving rise to the unusual genetics of the disorder. The repeat is also somatically unstable, and expanded alleles accumulate throughout life, thus compromising simple measures of intergenerational stability. OBJECTIVE: To gain a better understanding of...

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Identifiers

PMID: 14745066
DOI: 10.1212/wnl.62.2.269

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.PMID 14745066Read ↗

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.Semantic proximity Read ↗

Frequency and stability of the myotonic dystrophy type 1 premutation.Semantic proximity Read ↗

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 ↗

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.Semantic proximity Read ↗

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.Semantic proximity Read ↗

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.Semantic proximity Read ↗

Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues 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 ↗

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