Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant

Key Points

• To investigate the implications of a novel hemizygous DMD indel variant in dystrophin-deficient cardiomyopathy.
• Periodic review of genetic variants
• Assessment of the clinical impact of indel variant
• Evaluation of early diagnosis and treatment options
• Identified a novel hemizygous DMD indel variant
• Treatment approaches enhance patient outcomes
• Early diagnosis aids in effective family screening