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

[Genotype-phenotype correlation in myotonic dystrophy and prediction of clinical seriousness].

Revista de neurologia - 1 Jan 2000

García-Gómez T, Maestre J, Garrido M L, Vilches R, Fernández M D, Mínguez A, Serrano P

Abstract excerpt

INTRODUCTION: Since description of the expansion of the number of CTG trinucleotides on the long arm of chromosome 19 in the 19 q 13.2-13.3 interval as being responsible for myotonic dystrophy (DM), many studies have established a direct relationship between the size of the expansion and the severity of the manifestations. OBJECTIVES: To evaluate the clinico-genetic correlation in a population with DM in Eastern...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Chromosomes, Human, Pair 19

Share to Infant

Share to Infant, Newborn

Share to Myotonic Dystrophy

Share to Severity of Illness Index

Source

Identifiers

PMID: 10584260

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

[Genotype-phenotype correlation in myotonic dystrophy and prediction of clinical seriousness].PMID 10584260Read ↗

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

Characteristics of myotonic dystrophy in Istria: molecular genetics approach--mutation analysis.Semantic proximity Read ↗

[Myotonic dystrophy: magnetic resonance tomography and clinico-genetic correlations].Semantic proximity Read ↗

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

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

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

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients.Semantic proximity Read ↗

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeatsSemantic proximity Read ↗

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

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

CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers.Semantic proximity Read ↗

Relationship Between Parental Trinucleotide GCT Repeat Length and Severity of Myotonic Dystrophy in OffspringSemantic proximity Read ↗

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