ArticleJournal of human genetics2015
Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Becker muscular dystrophy: case report, review of the literature, and analysis of differentially expressed hub genes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Pooled it
- Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.Pediatric cardiology · 2025Article
- Article
- Article
- Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms.Internal medicine (Tokyo, Japan) · 2019Article
- Variants Associated with the Ankle Brachial Index Differ by Hispanic/Latino Ethnic Group: a genome-wide association study in the Hispanic Community Health Study/Study of Latinos.Scientific reports · 2019Article
- Genotype-phenotype correlation in Becker muscular dystrophy in Chinese patients.Journal of human genetics · 2018Article
- Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype.Journal of cardiovascular development and disease · 2017Review
- Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves.Korean circulation journal · 2016Review
- X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy.Pharmaceuticals (Basel, Switzerland) · 2015Review
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
We report a family in which two male siblings with Becker muscular dystrophy (BMD) developed severe dilated cardiomyopathy (DCM) and progressive heart failure (HF) at age 11 years; one died at age 14 years while awaiting heart transplant and the other underwent left ventricular assist device implantation at the same age. Genetic analysis of one sibling showed a novel frameshift mutation in exon 27 of Duchenne muscular dystrophy (DMD) gene (c.3779_3785delCTTTGGAinsGG), in which seven base pairs are deleted and two are inserted. Although this predicts an amino-acid substitution and premature termination (p.Thr1260Argfs*8), muscle biopsy dystrophin immunostaining instead indicates that the mutation is more likely to alter splicing. Despite relatively preserved skeletal muscular performance, both the siblings developed progressive HF secondary to early-onset DCM. In addition, their 7-year-old nephew with delayed gross motor development, mild proximal muscle weakness and markedly elevated serum creatine kinase level (>13 000 IU l(-1)) at 16 months was recently demonstrated to have the familial DMD mutation. Here, we report a novel genotype of BMD with early-onset DCM and progressive lethal HF during early adolescence.
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