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Article

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

Journal of medical genetics - 1 Feb 1995

Cobo A M, Poza J J, Martorell L, López de Munain A, Emparanza J I, Baiget M

Abstract excerpt

A molecular analysis of the maternal and child CTG repeat size and intergenerational amplification was performed in order to estimate the risk of having a child with congenital myotonic dystrophy (CMD). In a study of 124 affected mother-child pairs (42 mother-CMD and 82 mother-non-CMD) the mean m...

Topics

Adult
Alleles
Child
DNA
Electrophoresis, Agar Gel
False Positive Reactions
Female
Genetic Testing
Heterozygote
Humans
Male
Minisatellite Repeats
Myotonic Dystrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7760317
DOI: 10.1136/jmg.32.2.105
PMCID: PMC1050229

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7760317-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.PMID 7760317Read ↗

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 ↗

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 ↗

Congenital Phenotypes and DMPK CTG Repeat Number in Mothers and Children With Myotonic Dystrophy Type 1Semantic proximity Read ↗

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

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

Relationship Between Parental Trinucleotide GCT Repeat Length and Severity of Myotonic Dystrophy in OffspringSemantic proximity Read ↗

[Effect of maternal paternal transmissions on clinical manifestations of CTG repeat on myotonic dystrophy].Semantic proximity Read ↗

Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families.Semantic proximity Read ↗

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Intergenerational stability of the myotonic dystrophy protomutation.Semantic proximity Read ↗

Direct molecular diagnosis of myotonic dystrophy.Semantic proximity Read ↗

Prenatal diagnosis for the unstable CTG repeat sequence in myotonic dystrophy: a retrospective study in a French family.Semantic proximity Read ↗

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