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Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice
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Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant

Kathryn Albrecht1, Tauben Averbuch2, Cathleen Huculak3

  • 1Broderick Cardiomyopathy Program, University of Calgary, Calgary, Alberta, Canada.

JACC. Case Reports
|March 12, 2026
PubMed

Insights

Dystrophin variants cause varied muscle and heart conditions. Functional testing alongside clinical data is crucial for accurately diagnosing cardiomyopathy and identifying disease-causing gene variants for early intervention.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Neuromuscular Disorders

Background:

  • Dystrophin gene variants are linked to a spectrum of conditions, from isolated cardiomyopathy to severe Duchenne muscular dystrophy.
  • Phenotypic diversity arises from different dystrophin alterations, impacting muscle function and integrity.
Abstract

Keywords:
cardiomyopathydystrophinopathygenetic cardiomyopathy

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