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Article

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

American journal of human genetics - 1 May 1993

Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes J P, Duros C, Savoy D, Dehaupas I, Luce S, Johnson K, Junien C

Abstract excerpt

Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene. A correlation has been demonstrated between the increase in the repeat number of this sequence and the severity of the disease. However, the clinical status of patients cannot be unambiguously ascertained solely on the basis of the...

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Identifiers

PMID: 8098180
PMCID: PMC1682032

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Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.PMID 8098180Read ↗

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.Semantic proximity Read ↗

CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers.Semantic proximity Read ↗

Molecular genetics and genetic testing in 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 ↗

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 ↗

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.Semantic proximity Read ↗

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

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

Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.Semantic proximity Read ↗

Somatic instability of CTG repeat in myotonic dystrophy.Semantic proximity Read ↗

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.Semantic proximity Read ↗

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