Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.
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.
Chamberlain, RC; Smith, EC; Campbell, MJ
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