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

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

Brain : a journal of neurology - 1 Aug 2004

Schoser Benedikt G H, Kress Wolfram, Walter Maggie C, Halliger-Keller Birgit, Lochmüller Hanns, Ricker Kenneth

Abstract excerpt

Myotonic dystrophy type 2 (DM2) is caused by a dominantly transmitted CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene on chromosome 3q. DM2 patients with two mutant alleles have not been reported so far. In one large consanguineous family from Afghanistan, we found three homozygotes for the DM2 mutation. The oldest patient was clinically more severely affected, compared with the two...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Chromosomes, Human, Pair 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repeat Expansion

Share to Magnetic Resonance Imaging

Share to Muscle, Skeletal

Share to Myotonic Dystrophy

Share to RNA-Binding Proteins

Share to Zinc Fingers

Source

Identifiers

PMID: 15231584
DOI: 10.1093/brain/awh210

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Homozygosity for CCTG mutation in myotonic dystrophy type 2.PMID 15231584Read ↗

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.Semantic proximity Read ↗

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

Myotonic dystrophy type 2Semantic proximity Read ↗

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).Semantic proximity Read ↗

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.Semantic proximity Read ↗

Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.Semantic proximity Read ↗

A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2.Semantic proximity Read ↗

Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.Semantic proximity Read ↗

Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.Semantic proximity Read ↗

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.Semantic proximity Read ↗

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

Myotonic dystrophy with no trinucleotide repeat expansionSemantic proximity Read ↗

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