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

Characteristics of dynamic mutation in Japanese myotonic dystrophy.

The Japanese journal of human genetics - 1 Sept 1994

Yamagata H, Miki T, Yamanaka N, Takemoto Y, Kanda F, Takahashi K, Inui T, Kinoshita M, Nakagawa M, Higuchi I

Abstract excerpt

To study the characteristics, if any, of unstable CTG repeat sequence in Japanese myotonic dystrophy (DM), we analyzed DNA from 351 at risk individuals (including affected and non-affected carriers and their descendants) from 105 families in Japan. A total of 93 DM families (196 affected and 116 unaffected individuals), including 84 DM parent-child pairs (44 father-child and 40 mother-child pairs), were examined,...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Adolescent
Share to Child, Preschool

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

Share to DNA Mutational Analysis

Share to Infant

Share to Mutation

Share to Myotonic Dystrophy

Source

Identifiers

PMID: 7841443
DOI: 10.1007/BF01874051

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

Characteristics of dynamic mutation in Japanese myotonic dystrophy.PMID 7841443Read ↗

Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.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 ↗

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

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

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

Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.Semantic proximity Read ↗

Molecular genetics and genetic testing in myotonic dystrophy type 1.Semantic proximity Read ↗

Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.Semantic proximity Read ↗

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

Somatic instability of CTG repeat in myotonic dystrophy.Semantic proximity Read ↗

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic CellsSemantic proximity Read ↗

[Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene].Semantic proximity Read ↗

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