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Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy

Reid C Chamberlain1, Edward C Smith2, Michael J Campbell3

  • 1Department of Pediatrics, Duke University Medical Hospital, Durham, North Carolina.

Pediatric Neurology
|August 22, 2015
PubMed

Insights

X-linked dilated cardiomyopathy, a heart condition without muscle weakness, was diagnosed in a teen via genetic testing. This rare dystrophinopathy highlights a unique presentation of genetic heart disease.

Area of Science:

  • Cardiology
  • Genetics
  • Neuromuscular Disorders

Background:

  • X-linked dilated cardiomyopathy is a rare, heart-focused dystrophinopathy.
  • It is genetically linked to Duchenne and Becker muscular dystrophy.
  • Characterized by heart failure without skeletal muscle weakness.
Abstract

Keywords:
Becker muscular dystrophyDuchenne muscular dystrophyX-linkedcardiomyopathydystrophinopathy

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