Associated Papers
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S11
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.
Johnson R et al.
Circulation. Genomic and Precision Medicine, 2023
Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy.
Nguyen TV et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2021
X-linked dilated cardiomyopathy: the important role of genetic tests and imaging in the early diagnosis and treatment.
Tsalamandris S et al.
Future Cardiology, 2020
Normal and altered pre-mRNA processing in the DMD gene.
Tuffery-Giraud S et al.
Human Genetics, 2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Okubo M et al.
Orphanet Journal of Rare Diseases, 2017
28859693 (PubMed )
Supplement: 13023_2017_703_MOESM1_ESM.pdf
Familial dilated cardiomyopathy secondary to dystrophin splice site mutation.
Obler D et al.
Journal of Cardiac Failure, 2010
Novel mutation in splicing donor of dystrophin gene first exon in a patient with dilated cardiomyopathy but no clinical signs of skeletal myopathy.
Kimura S et al.
Journal of Child Neurology, 2007
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
Prior TW et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.
Feng J et al.
Journal of the American College of Cardiology, 2002
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Kekou K et al.
Expert Review of Molecular Diagnostics, 0
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