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

[Mutation analysis in the CTG-base multiplication in a family with myotonic dystrophy in three generations].

Orvosi hetilap - 3 May 1998

Molnár J, Kis A, Melegh B, Nádasi E, Varjas T, Kovács E, Kosztolanyi G

Abstract excerpt

A PCR-based method with a novel silver staining detection was developed for the determination of CTG repeat number in the 3' untranslated region of the MD-PK gene responsible for myotonic dystrophy. Through the investigation of a family with affected members in three generations the application of the method is presented. According to the results, healthy individuals were verified easily, and the repeat number in...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Gene Amplification
Share to Gene Expression

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 Polymerase Chain Reaction

Source

Identifiers

PMID: 9608771

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Mutation analysis in the CTG-base multiplication in a family with myotonic dystrophy in three generations].PMID 9608771Read ↗

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

[DNA diagnosis in myotonic dystrophy].Semantic proximity Read ↗

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

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

[Detection for trinucleotide repeats in myotonic dystrophy type 1].Semantic proximity Read ↗

Molecular analysis of two pre-mutations in myotonic dystrophy.Semantic proximity Read ↗

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

Genotype-phenotype correlation in myotonic dystrophy.Semantic proximity Read ↗

[Premutation in myotonic dystrophy].Semantic proximity Read ↗

Variation of CTG-repeat number of the DMPK gene in muscle tissue.Semantic proximity Read ↗

Presymptomatic diagnosis of myotonic dystrophy.Semantic proximity Read ↗

A DM1 patient with CCG variant repeats: Reaching the diagnosis.Semantic proximity Read ↗

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