Emery–Dreifuss muscular dystrophy: a test case for precision medicine
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Genetics
Cited by 16 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene;Clinical Case Reports;2024-08
2. Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan;Journal of Inborn Errors of Metabolism and Screening;2023
3. Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report;BMC Pediatrics;2022-10-17
4. Comparative Genome and Transcriptome Integration Studies Reveal the Mechanism of Pectoral Muscle Development and Function in Pigeons;Frontiers in Genetics;2021-12-21
5. Acute heart failure and bradyarrhythmia in a young male—what hides beneath the surface?: a case report;European Heart Journal - Case Reports;2021-10-01
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