ArticleBMC medical genetics2003
Lamin A/C truncation in dilated cardiomyopathy with conduction disease.
Article in BMC medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00138931 (Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.), which is not on this map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Nuclear envelope lamin-related dilated cardiomyopathy: a case series including histopathology.European heart journal. Case reports · 2024Article
- Epigenetics inCells · 2023Review
- Epigenetic reprogramming to prevent genetic cardiomyopathy.The Journal of clinical investigation · 2021Article
- Genetic Complexity of Sinoatrial Node Dysfunction.Frontiers in genetics · 2021Review
- Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.Orphanet journal of rare diseases · 2019Article
- Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations.Human molecular genetics · 2015Article
- Left ventricular noncompaction in a family with lamin A/C gene mutation.Texas Heart Institute journal · 2015Article
- Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.European journal of human genetics : EJHG · 2013Article
- Dilated cardiomyopathy: the complexity of a diverse genetic architecture.Nature reviews. Cardiology · 2013Review
- Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy or conduction disease.Clinical research in cardiology : official journal of the German Cardiac Society · 2011Article
- Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.Journal of the American College of Cardiology · 2011Review
- Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.PloS one · 2010Article
- Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Article
- Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.Expert review of molecular diagnostics · 2010Review
- Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2010Article
- Diseases of the nuclear envelope.Cold Spring Harbor perspectives in biology · 2010Review
- Article
- Molecular mechanisms of inherited arrhythmias.Current genomics · 2008Article
- Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing · 2007Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including autosomal dominant dilated cardiomyopathy with conduction system disease, autosomal dominant and recessive Emery Dreifuss Muscular Dystrophy, limb girdle muscular dystrophy type 1B, autosomal recessive type 2 Charcot Marie Tooth, mandibuloacral dysplasia, familial partial lipodystrophy and Hutchinson-Gilford progeria.
methodsWe used mutation detection to evaluate the lamin A/C gene in a 45 year-old woman with familial dilated cardiomyopathy and conduction system disease whose family has been well characterized for this phenotype 1.
resultsDNA from the proband was analyzed, and a novel 2 base-pair deletion c.908_909delCT in LMNA was identified.
conclusionsMutations in the gene encoding lamin A/C can lead to significant cardiac conduction system disease that can be successfully treated with pacemakers and/or defibrillators. Genetic screening can help assess risk for arrhythmia and need for device implantation.
Indexed as
Identifiers
What OpenQuestion holds
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.