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

A case of paternally inherited congenital myotonic dystrophy.

Journal of medical genetics - 1 May 1994

Nakagawa M, Yamada H, Higuchi I, Kaminishi Y, Miki T, Johnson K, Osame M

Abstract excerpt

We report two sisters with congenital myotonic dystrophy (CDM) born to a normal mother and an affected father. The congenitally affected daughters had symptoms from birth. The age of onset of DM in the father was 39 years. Analysis of the CTG trinucleotide expansion in this family showed increase in the repeat length with increasing severity, with the smallest expansion in the grandfather and the largest...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Fathers

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

Share to Gene Expression

Share to Myotonic Dystrophy

Share to Pedigree

Share to Phenotype

Share to Repetitive Sequences, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 8064819
DOI: 10.1136/jmg.31.5.397
PMCID: PMC1049873

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

A case of paternally inherited congenital myotonic dystrophy.PMID 8064819Read ↗

Paternal transmission of congenital myotonic dystrophy.Semantic proximity Read ↗

Congenital Phenotypes and DMPK CTG Repeat Number in Mothers and Children With Myotonic Dystrophy Type 1Semantic proximity Read ↗

Molecular genetics of congenital myotonic dystrophySemantic proximity Read ↗

[Effect of maternal paternal transmissions on clinical manifestations of CTG repeat on 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 ↗

Congenital myotonic dystrophy.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 ↗

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.Semantic proximity Read ↗

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

Direct molecular diagnosis of myotonic dystrophy.Semantic proximity Read ↗

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.Semantic proximity Read ↗

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.Semantic proximity Read ↗

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