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

Negative expansion of the myotonic dystrophy unstable sequence.

American journal of human genetics - 1 Jun 1993

Abeliovich D, Lerer I, Pashut-Lavon I, Shmueli E, Raas-Rothschild A, Frydman M

Abstract excerpt

We have analyzed the unstable fragment of the myotonic dystrophy (DM) gene in a pregnancy at 50% risk for DM. The affected father in this family had a 3.0-kb expansion of the DM unstable region. The fetus inherited the mutated gene, but with an expansion of 0.5 kb. This case represented a counseling problem in light of the absence of data concerning "negative expansion." Analysis of the DM gene in 17 families...

Read the complete abstract on PubMed

Topics

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

Share to Cells, Cultured
Share to Infant, Newborn
Share to Mitosis

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

Share to Mutation

Share to Myotonic Dystrophy

Share to Pedigree

Share to Pregnancy

Share to Repetitive Sequences, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 8503449
PMCID: PMC1682287

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

Negative expansion of the myotonic dystrophy unstable sequence.PMID 8503449Read ↗

Unstable DNA sequence in myotonic dystrophy.Semantic proximity Read ↗

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

An unstable triplet repeat in a gene related to myotonic muscular dystrophy.Semantic proximity Read ↗

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.Semantic proximity Read ↗

Characteristics of dynamic mutation in Japanese myotonic dystrophy.Semantic proximity Read ↗

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

Direct molecular diagnosis of myotonic dystrophy.Semantic proximity Read ↗

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.Semantic proximity Read ↗

Molecular analysis for the myotonic dystrophy mutation in neuromuscular disorders.Semantic proximity Read ↗

Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.Semantic proximity Read ↗

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

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.Semantic proximity Read ↗

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