Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms
Author:
Affiliation:
1. Department of Human Genetics Emory University Atlanta Georgia USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63475
Reference15 articles.
1. The Future of Exon Skipping for Duchenne Muscular Dystrophy
2. Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule;Aartsma‐Rus A.;Muscle & Nerve: Official Journal of the American Association of Electrodiagnostic Medicine,2006
3. Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
4. Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns
5. Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: A systematic review of published cases;Del Rio‐Pertuz G.;Orphanet Journal of Rare Diseases,2022
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