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

Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions.

Neurology - 25 Apr 2006

Arsenault M-E, Prévost C, Lescault A, Laberge C, Puymirat J, Mathieu J

Abstract excerpt

The authors report a genotype-phenotype correlation study in 102 patients with myotonic dystrophy type 1 carrying small CTG repeat expansions. Most patients carrying 50 to 99 CTG repeats were asymptomatic, except for cataracts. Myotonia, weakness, excessive daytime sleepiness, and myotonic discharges at EMG were significantly more present in the patients with 100 to 200 CTG repeats. These findings highlight...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Age of Onset
Share to Genetic Neurodegenerative Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Myotonic Dystrophy

Share to Phenotype

Share to Severity of Illness Index

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 16636244
DOI: 10.1212/01.wnl.0000208513.48550.08

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions.PMID 16636244Read ↗

Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat.Semantic proximity Read ↗

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.Semantic proximity Read ↗

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

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.Semantic proximity Read ↗

Myotonic dystrophy with no trinucleotide repeat expansionSemantic proximity Read ↗

Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.Semantic proximity Read ↗

Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history.Semantic proximity Read ↗

Cognitive impairment and (CTG)n expansion in myotonic dystrophy patientsSemantic proximity Read ↗

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

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1Semantic proximity Read ↗

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophySemantic proximity Read ↗

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

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