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

Publication ,  Journal Article
Chamberlain, RC; Smith, EC; Campbell, MJ
Published in: Pediatr Neurol
November 2015

BACKGROUND: X-linked dilated cardiomyopathy is a rare, cardio-specific form of dystrophinopathy allelic to Duchenne and Becker muscular dystrophy that results in heart failure without skeletal muscle weakness. PATIENT DESCRIPTION: We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure who was ultimately found to have a novel duplication of exons 13-16 in the dystrophin gene resulting in diagnosis of X-linked dilated cardiomyopathy. RESULTS: The patient was diagnosed with X-linked dilated cardiomyopathy through clinical diagnosis and genetic testing. CONCLUSION: X-linked dilated cardiomyopathy shares genotypic overlap with Duchenne and Becker muscular dystrophy, with its distinctive feature being a lack of progressive muscular weakness.

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Published In

Pediatr Neurol

DOI

EISSN

1873-5150

Publication Date

November 2015

Volume

53

Issue

5

Start / End Page

439 / 441

Location

United States

Related Subject Headings

  • Neurology & Neurosurgery
  • Male
  • Humans
  • Heart
  • Exons
  • Electrocardiography
  • Echocardiography
  • Dystrophin
  • Cardiomyopathy, Dilated
  • Adolescent
 

Citation

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ICMJE
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Chamberlain, R. C., Smith, E. C., & Campbell, M. J. (2015). Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy. Pediatr Neurol, 53(5), 439–441. https://doi.org/10.1016/j.pediatrneurol.2015.07.008
Chamberlain, Reid C., Edward C. Smith, and Michael J. Campbell. “Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.Pediatr Neurol 53, no. 5 (November 2015): 439–41. https://doi.org/10.1016/j.pediatrneurol.2015.07.008.
Chamberlain RC, Smith EC, Campbell MJ. Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy. Pediatr Neurol. 2015 Nov;53(5):439–41.
Chamberlain, Reid C., et al. “Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.Pediatr Neurol, vol. 53, no. 5, Nov. 2015, pp. 439–41. Pubmed, doi:10.1016/j.pediatrneurol.2015.07.008.
Chamberlain RC, Smith EC, Campbell MJ. Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy. Pediatr Neurol. 2015 Nov;53(5):439–441.
Journal cover image

Published In

Pediatr Neurol

DOI

EISSN

1873-5150

Publication Date

November 2015

Volume

53

Issue

5

Start / End Page

439 / 441

Location

United States

Related Subject Headings

  • Neurology & Neurosurgery
  • Male
  • Humans
  • Heart
  • Exons
  • Electrocardiography
  • Echocardiography
  • Dystrophin
  • Cardiomyopathy, Dilated
  • Adolescent