Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Myotonic dystrophy with no trinucleotide repeat expansion

C A Thornton1, R C Griggs, R T Moxley

  • 1Neuromuscular Disease Center, University of Rochester School of Medicine and Dentistry, NY 14620.

Annals of Neurology
|March 1, 1994
PubMed
Summary

Three patients with myotonic dystrophy lacked the typical CTG repeat expansion in the myotonic dystrophy gene. Their symptoms and muscle pathology confirmed the diagnosis, suggesting alternative genetic causes.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Survival patterns and cancer determinants in families with myotonic dystrophy type 1.

European journal of neurology·2018
Same author

Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy.

European journal of neurology·2017
Same author

Human gestation-associated tissues express functional cytosolic nucleic acid sensing pattern recognition receptors.

Clinical and experimental immunology·2017
Same author

Clear liquor in labour-How safe a sign?

Irish journal of medical science·2016
Same author

Signal transducer and activator of transcription-3 licenses Toll-like receptor 4-dependent interleukin (IL)-6 and IL-8 production via IL-6 receptor-positive feedback in endometrial cells.

Mucosal immunology·2016
Same author

Bioenergetic analysis of human peripheral blood mononuclear cells.

Clinical and experimental immunology·2015

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Myotonic dystrophy (DM) is a progressive multisystem disorder.
  • The genetic hallmark of DM is an abnormal expansion of CTG trinucleotide repeats in the DMPK gene for DM1 or a GGC repeat expansion in the CNBP gene for DM2.

Observation:

  • This study presents 3 patients from 2 families exhibiting characteristic myotonic dystrophy features.
  • These patients presented with frontal balding, cataracts, cardiac conduction abnormalities, testicular atrophy, myotonia, and muscle weakness.

Findings:

  • Genetic analysis revealed a normal number of CTG repeats in the myotonic dystrophy gene in both leukocyte and muscle DNA.
  • Muscle histopathology results were consistent with myotonic dystrophy, despite the absence of the expected repeat expansion.

Related Experiment Videos

Implications:

  • The findings indicate that myotonic dystrophy can occur in the absence of the canonical CTG repeat expansion.
  • This suggests that other genetic mechanisms or mutations may underlie myotonic dystrophy in some individuals.
  • Diagnostic protocols for myotonic dystrophy should consider cases with normal repeat lengths.