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

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

Journal of medical genetics - 1 Nov 1992

Melchionda S, Cobo A, Gennarelli M, Martorell L, Fattorini C, Baiget M, Lopez de Munain A, Johnson K, Shelbourne P, Novelli G

Abstract excerpt

Myotonic dystrophy results from expansion of a (CTG)n repeat at the 3' untranslated region of the myotonin-protein kinase gene. We show here the genomic analysis of 322 symptomatic patients with the cDNA-25 probe detecting disease specific EcoRI restriction fragments. The expansion was found in the majority of Italian and Spanish patients (92%). The implications of these results for the detection of symptomatic...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to DNA Mutational Analysis

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

Share to DNA Probes

Share to Genetics, Population

Share to Myotonic Dystrophy

Source

Open in PubMed Open full text

Identifiers

PMID: 1453428
DOI: 10.1136/jmg.29.11.789
PMCID: PMC1016172

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

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.PMID 1453428Read ↗

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

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.Semantic proximity Read ↗

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.Semantic proximity Read ↗

Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragmentSemantic proximity Read ↗

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

Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR.Semantic proximity Read ↗

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.Semantic proximity Read ↗

Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron.Semantic proximity Read ↗

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.Semantic proximity Read ↗

Analysis of RFLPs and DNA deletions in the Chinese Duchenne muscular dystrophy gene.Semantic proximity Read ↗

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.Semantic proximity Read ↗

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.Semantic proximity Read ↗

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