Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

De novo myotonic dystrophy mutation in a Nigerian kindred.

American journal of human genetics - 1 May 1995

Krahe R, Eckhart M, Ogunniyi A O, Osuntokun B O, Siciliano M J, Ashizawa T

Abstract excerpt

An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and flanking DMPK over a physical distance of 30 kb has been shown to be in complete linkage...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Base Sequence
Share to Blotting, Southern

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Haplotypes

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 7726160
PMCID: PMC1801445

Genes

DMPK

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo myotonic dystrophy mutation in a Nigerian kindred.PMID 7726160Read ↗

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?Semantic proximity Read ↗

Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population.Semantic proximity Read ↗

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.Semantic proximity Read ↗

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.Semantic proximity Read ↗

Normal variation at the myotonic dystrophy locus in global human populations.Semantic proximity Read ↗

A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations.Semantic proximity Read ↗

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

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeatSemantic proximity Read ↗

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation.Semantic proximity Read ↗

[Molecular genetics of myotonic dystrophy].Semantic proximity Read ↗

Instability of normal (CTG)n alleles in the DM kinase gene.Semantic proximity Read ↗

Presymptomatic diagnosis of myotonic dystrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.