ReviewThe application of clinical genetics2016
Emery-Dreifuss muscular dystrophy: a test case for precision medicine.
Review in The application of clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy, from Arrhythmias to Heart Failure and Sudden Death: A Contemporary Review.Journal of clinical medicine · 2026Review
- Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery-Dreifuss Muscular Dystrophy.The Indian journal of radiology & imaging · 2025Article
- Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene.Clinical case reports · 2024Article
- 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 · 2022Article
- Acute heart failure and bradyarrhythmia in a young male-what hides beneath the surface?: a case report.European heart journal. Case reports · 2021Article
- Role ofBiomolecules · 2021Article
- Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children.Frontiers in cardiovascular medicine · 2021Article
- Comparative Genome and Transcriptome Integration Studies Reveal the Mechanism of Pectoral Muscle Development and Function in Pigeons.Frontiers in genetics · 2021Article
- RareFrontiers in cell and developmental biology · 2019Article
- Four and a half LIM domain protein signaling and cardiomyopathy.Biophysical reviews · 2018Review
- Spindle associated membrane protein 1 (Samp1) is required for the differentiation of muscle cells.Scientific reports · 2017Article
- Bethlem myopathy in a Portuguese patient - case report.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2017Article
- A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.BMC medical genetics · 2017Article
- Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature.BMC research notes · 2017Review
- Computational Exploration for Lead Compounds That Can Reverse the Nuclear Morphology in Progeria.BioMed research international · 2017Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is their involvement in, or with, the nuclear envelope. Treatment approaches are largely based on clinical symptoms. The genetic diversity of EDMD predicts that a cure will ultimately depend upon the individual's defect at the gene level, making this an ideal candidate for a precision medicine approach.
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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.