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Article

Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.

Annals of neurology - 1 Oct 2002

Abbruzzese Claudia, Costanzi Porrini Sandro, Mariani Bruno, Gould Fiona K, McAbney John P, Monckton Darren G, Ashizawa Tetsuo, Giacanelli Manlio

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat in the DMPK gene on chromosome 19q13.3. We present two siblings with DM1 who each inherited a premutation allele, (CTG)43, stably transmitted from the mother and a full-mutation allele, either (CTG)500 or (CTG)180, derived from a paternal protomutation allele, (CTG)52. Small-pool polymerase chain reaction analysis showed that the...

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Source

Identifiers

PMID: 12325072
DOI: 10.1002/ana.10304

Genes

DMPK

Provenance

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.

Related research

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Research trail→

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Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.PMID 12325072Read ↗

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

Premutation allele pool in myotonic dystrophy type 2.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 ↗

Molecular genetics and genetic testing in myotonic dystrophy type 1.Semantic proximity Read ↗

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 ↗

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.Semantic proximity Read ↗

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutationsSemantic 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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