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Article

Intergenerational stability of the myotonic dystrophy protomutation.

Human molecular genetics - 1 Jun 1993

Barceló J M, Mahadevan M S, Tsilfidis C, MacKenzie A E, Korneluk R G

Abstract excerpt

The amplification of the CTG trinucleotide repeat in myotonic dystrophy (DM) correlates with increasingly severe phenotypes. We designate its minimal amplification the 'protomutation' since it is the mutation itself at an early stage of intergenerational evolution and is associated with very mild clinical signs. From the study of 536 DM mutation carriers (from 158 affected families), a total of 60...

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PMID: 8353489
DOI: 10.1093/hmg/2.6.705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Intergenerational stability of the myotonic dystrophy protomutation.PMID 8353489Read ↗

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

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

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.Semantic proximity Read ↗

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

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