ArticleThe application of clinical genetics2019
Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy.
Article in The application of clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04478981 (The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes), which is not on this map. Cited by 30 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.
The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes: Working Towards Trial-readiness in Two Mitochondrial Myopathy Mimics
Who cites it
30 citing papers in PubMed, 65 citations in OpenAlex.
- Unexplained multiorgan fat embolism syndrome in a 10-year-old child with LAMA2-related congenital muscular dystrophy.Forensic science, medicine, and pathology · 2026Article
- Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.Molecular biology reports · 2026Article
- A novel mouse model foreLife · 2025Article
- Systemic inhibition of bone morphogenetic protein 1.3 as a possible treatment for laminin-related congenital muscular dystrophy.International orthopaedics · 2025Review
- Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants.SAGE open medical case reports · 2025Article
- Exon-Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy.Methods in molecular biology (Clifton, N.J.) · 2025Article
- An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Missing Values in Longitudinal Proteome Dynamics Studies: Making a Case for Data Multiple Imputation.Journal of proteome research · 2024Article
- Laminin Alpha 2 Enhances the Protective Effect of Exosomes on Human iPSC-Derived Cardiomyocytes in an In Vitro Ischemia-Reoxygenation Model.International journal of molecular sciences · 2024Article
- A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.Journal of neuromuscular diseases · 2024Article
- Effects of Doxorubicin on Extracellular Matrix Regulation in Primary Cardiac Fibroblasts from Mice.BMC research notes · 2023Article
- AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).Translational research : the journal of laboratory and clinical medicine · 2023Article
- Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy.Disease models & mechanisms · 2023Article
- Case report: Novel frameshift mutation inFrontiers in genetics · 2023Article
- Merosin-deficient congenital muscular dystrophy type 1a: detection ofFrontiers in genetics · 2023Article
- LAMA2-related muscular dystrophy mimicking multiple sclerosis.BMJ case reports · 2022Article
- Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.Molecular therapy. Nucleic acids · 2022Article
- Evidence of Two NovelFrontiers in neurology · 2022Article
- Determination of Agrin and Related Proteins Levels as a Function of Age in Human Hearts.Frontiers in cardiovascular medicine · 2022Article
- LAMA2 and LOXL4 are candidate FSGS genes.BMC nephrology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital muscular dystrophy (CMD) is a class of severe early-onset muscular dystrophies affecting skeletal/cardiac muscles as well as the central nervous system (CNS). Laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2 MD), also known as merosin-deficient congenital muscular dystrophy type 1A (MDC1A), is an autosomal recessive CMD characterized by severe muscle weakness and degeneration apparent at birth or in the first 6 months of life. LAMA2 MD is the most common congenital muscular dystrophy, affecting approximately 4 in 500,000 children. The most common cause of death in early-onset LAMA2 MD is respiratory tract infection, with 30% of them dying within the first decade of life. LAMA2 MD is caused by loss-of-function mutations in the
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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.