ReviewBMC medical genomics2019
Genotype-phenotype correlations in FSHD.
Review in BMC medical genomics, 2019. 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.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.Orphanet journal of rare diseases · 2025Article
- The Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression.International journal of molecular sciences · 2025Review
- French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).Journal of neurology · 2024Review
- Review
- Review
- Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy.Neurology · 2023Observational
- Influence ofInternational journal of molecular sciences · 2023Review
- Molecular combing and its application in clinical settings.Molecular cytogenetics · 2022Review
- Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients.Children (Basel, Switzerland) · 2022Article
- Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient.SAGE open medical case reports · 2022Article
- Epigenetic Regulation of Myogenesis: Focus on the Histone Variants.International journal of molecular sciences · 2021Review
- FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach.Diagnostics (Basel, Switzerland) · 2021Article
- Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases.Frontiers in physiology · 2021Article
- Cellular Stress in the Pathogenesis of Muscular Disorders-From Cause to Consequence.International journal of molecular sciences · 2020Review
- Medical genomics research at BGRS-2018.BMC medical genomics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFacial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and FSHD2 (MIM: 158901), which have different genetic causes but are phenotypically indistinguishable. In FSHD1, partial deletion of the D4Z4 repeats on the 4th chromosome affects the expression of DUX4, whereas FSHD2 is caused by the mutations in the protein regulating the methylation status of chromatin - SMCHD1. High variability of clinical picture, both intra - and inter-family indicates a large number of factors influencing clinical picture. There are key genetic, epigenetic and gender factors that influence the expressivity and penetrance of the disease. Using only one of these factors allows just a rough prediction of the course of the disease, which indicates the combined effect of all of the factors on the DUX4 expression and on the clinical picture.
resultsIn this paper, we analyzed the impact of genetic, epigenetic and gender differences on phenotype and the possibility of using them for disease prognosis and family counselling.
conclusionsKey pathogenesis factors have been identified for FSHD. However, the pronounced intra - and inter-family polymorphism of manifestations indicates a large number of modifiers of the pathological process, many of which remain unknown.
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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.