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Article

Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats.

Neuromuscular disorders : NMD - 1 Mar 1995

Novelli G, Gennarelli M, Menegazzo E, Angelini C, Dallapiccola B

Abstract excerpt

A myotonic dystrophy (DM) family is described in which discordant DM phenotypes were found in the children of two affected sisters with similar CTG expansion and clinical manifestations. In this family, congenital as well as early severe childhood and later childhood onset DM coexist. This observation strengthens the limited ability of lymphocytes CTG repeat number analysis in predicting genotype-phenotype...

Topics

Adolescent
Adult
Base Sequence
Child, Preschool
DNA
Female
Genotype
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Myotonic Dystrophy

Pedigree

Phenotype

Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 7767095
DOI: 10.1016/0960-8966(94)00044-a

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7767095-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats.PMID 7767095Read ↗

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeatsSemantic 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 ↗

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

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Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.Semantic proximity Read ↗

(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.Semantic proximity Read ↗

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.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 ↗

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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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