ArticleThe Journal of clinical investigation1995
A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.
Article in The Journal of clinical investigation, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 114 citations in OpenAlex.
- The Multi-System Roles of Dp71 Dystrophin Isoforms in Duchenne Muscular Dystrophy.Muscles (Basel, Switzerland) · 2026Review
- Targeting IRES-dependent translation as a novel approach for treating Duchenne muscular dystrophy.RNA biology · 2021Review
- The multifaceted view of heart problem in Duchenne muscular dystrophy.Cellular and molecular life sciences : CMLS · 2021Review
- Working Memory Alterations Plays an Essential Role in Developing Global Neuropsychological Impairment in Duchenne Muscular Dystrophy.Frontiers in psychology · 2020Article
- A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.Medicine · 2018Observational
- Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.Circulation. Genomic and precision medicine · 2018Article
- Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype.Journal of cardiovascular development and disease · 2017Review
- Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.Journal of the American College of Cardiology · 2016Review
- X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy.Pharmaceuticals (Basel, Switzerland) · 2015Review
- Article
- Cardiac-specific deletion of the microtubule-binding protein CENP-F causes dilated cardiomyopathy.Disease models & mechanisms · 2012Article
- The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.BMC medical genetics · 2012Article
- Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy.Circulation. Cardiovascular genetics · 2009Article
- Challenges and opportunities in dystrophin-deficient cardiomyopathy gene therapy.Human molecular genetics · 2006Review
- Cardiomyopathy, familial dilated.Orphanet journal of rare diseases · 2006Review
- Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.Heart (British Cardiac Society) · 2004Review
- Dystrophin and the cardiomyocyte membrane cytoskeleton in the healthy and failing heart.Heart failure reviews · 2000Article
- Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.Journal of medical genetics · 2000Article
- Effect of adopting a new histological grading system of acute rejection after heart transplantation.Heart (British Cardiac Society) · 1997Article
- Cardiac compartment-specific overexpression of a modified retinoic acid receptor produces dilated cardiomyopathy and congestive heart failure in transgenic mice.The Journal of clinical investigation · 1997Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 2 countries.
Funding
Abstract
We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness. Dystrophin expression was present in the muscle of affected males and transcription studies indicated that this dystrophin originated from the brain and Purkinje cell isoforms, upregulated in this skeletal muscle. We have now studied dystrophin transcription and expression in the heart of one member of this family. In contrast to the skeletal muscle, dystrophin transcription and expression were absent in the heart, with the exception of the distal Dp71 dystrophin isoform, normally present in the heart. The 43- and 50-kD dystrophin-associated proteins were severely reduced in the heart, despite the presence of Dp71, but not in skeletal muscle. The absence of dystrophin and the down-regulation of the dystrophin-associated proteins in the heart accounted for the severe cardiomyopathy in this family. The mutation present in these males selectively affects dystrophin expression in the heart; this could be secondary to the removal of cardiac-specific regulatory sequences. This family may represent the first example of a mutation specifically affecting the cardiac expression of a gene, present physiologically in both the skeletal and cardiac muscles.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.