title: Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  X-linked dilated cardiomyopathy shares genotypic overlap with Duchenne and Becker muscular dystrophy, with its distinctive feature being a lack of progressive muscular weakness.
authors: Department of Pediatrics, Duke University Medical Hospital, Durham, North Carolina. Electronic address: reid.chamberlain@duke.edu.
authors: Reid C
authors: RC
authors: Chamberlain
authors: Department of Pediatrics (Neurology), Duke University Medical Hospital, Durham, North Carolina.
authors: Edward C
authors: EC
authors: Smith
authors: Department of Pediatrics (Cardiology), Duke University Medical Hospital, Durham, North Carolina.
authors: Michael J
authors: MJ
authors: Campbell
mesh_terms: D000293:Adolescent; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D016189:Dystrophin / Q000235:genetics*; D004452:Echocardiography; D004562:Electrocardiography; D005091:Exons; D006321:Heart / Q000503:physiopathology; D006801:Humans; D008297:Male
chemical_list: C484258:DMD protein, human; D016189:Dystrophin
keywords: Becker muscular dystrophy; Duchenne muscular dystrophy; X-linked; cardiomyopathy; dystrophinopathy