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Article

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.

Human molecular genetics - 1 Sept 1993

Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, Edström L

Abstract excerpt

The discovery that there is an expansion of a CTG repeat underlying myotonic dystrophy has led to new approaches in diagnosis and genetic counselling for this disorder. The size of the expansion correlates to a reasonable degree with the clinical symptoms within a given family. We report comparisons of the length of the expansion seen in lymphocytes and muscle samples from eight patients. In all cases the length...

Topics

Adult
DNA
Female
Genetic Variation
Humans
Lymphocytes
Male
Middle Aged
Muscles
Myotonic Dystrophy
Oligodeoxyribonucleotides
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repetitive Sequences, Nucleic Acid

Time Factors

Tissue Distribution

Source

Identifiers

PMID: 8242063
DOI: 10.1093/hmg/2.9.1397

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8242063-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.PMID 8242063Read ↗

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytesSemantic proximity Read ↗

Unstable DNA sequence in myotonic dystrophy.Semantic proximity Read ↗

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.Semantic proximity Read ↗

Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR.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 ↗

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.Semantic proximity Read ↗

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.Semantic proximity Read ↗

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.Semantic proximity Read ↗

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

Molecular analysis for the myotonic dystrophy mutation in neuromuscular disorders.Semantic proximity Read ↗

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