ArticleAnnals of neurology2013
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.
Article in Annals of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 156 papers, 1 of them a synthesis that pooled it.
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.
Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.
Evaluating the Impact of Aerobic Exercise in Boys With Duchenne Muscular Dystrophy (DMD)
Who cites it
156 citing papers in PubMed, 1 synthesis or guideline pooled it, 238 citations in OpenAlex.
- Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.Journal of neuromuscular diseases · 2024Pooled it
- Serum biomarkers associated with baseline clinical severity in young steroid-naïve Duchenne muscular dystrophy boys.Human molecular genetics · 2020Trial
- Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy.Neurology · 2020Trial
- Multi-omic integrated networks connect DNA methylation and miRNA with skeletal muscle plasticity to chronic exercise in Type 2 diabetic obesity.Physiological genomics · 2014Trial
- Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy.European journal of human genetics : EJHG · 2026Article
- Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies.The Journal of pathology · 2026Article
- Identification of biomarkers associated with pathological dynamic progression in dystrophinopathies.Scientific reports · 2026Article
- The D2.B10-DmdThe American journal of pathology · 2026Article
- Volitional exercise elicits physiological and molecular improvements in the severe D2.mdx mouse model of Duchenne muscular dystrophy.The Journal of physiology · 2026Article
- Statistical Genetics ofGenes · 2025Article
- Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy.Developmental medicine and child neurology · 2025Article
- Muscle-specific increased expression ofProceedings of the National Academy of Sciences of the United States of America · 2025Article
- A two-site collaborative study of electrical impedance myography for evaluation of disease progression in murine Duchenne muscular dystrophy models.Scientific reports · 2025Article
- A combinatorial oligonucleotide therapy to improve dystrophin restoration and dystrophin-deficient muscle health.Molecular therapy. Nucleic acids · 2025Article
- Failure to resolve inflammation contributes to juvenile onset cardiac damage in a mouse model of Duchenne muscular dystrophy.Cell death & disease · 2025Article
- Molecular genetics of dystrophinopathy.Journal of human genetics · 2025Review
- Collagen type VI regulates TGF-β bioavailability in skeletal muscle in mice.The Journal of clinical investigation · 2025Article
- A genetic variant inScience advances · 2025Article
- Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations.Journal of neurology · 2025Observational
- Article
96 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 1 country.
Funding
Abstract
objectiveDuchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor-β binding protein 4, was previously discovered in a genome-wide scan as a modifier of murine muscular dystrophy. We sought to determine whether LTBP4 genotype influenced DMD severity in a large patient cohort.
methodsWe analyzed nonsynonymous single nucleotide polymorphisms (SNPs) from human LTBP4 in 254 nonambulatory subjects with known DMD mutations. These SNPs, V194I, T787A, T820A, and T1140M, form the VTTT and IAAM LTBP4 haplotypes.
resultsIndividuals homozygous for the IAAM LTBP4 haplotype remained ambulatory significantly longer than those heterozygous or homozygous for the VTTT haplotype. Glucocorticoid-treated patients who were IAAM homozygotes lost ambulation at 12.5 ± 3.3 years compared to 10.7 ± 2.1 years for treated VTTT heterozygotes or homozygotes. IAAM fibroblasts exposed to transforming growth factor (TGF) β displayed reduced phospho-SMAD signaling compared to VTTT fibroblasts, consistent with LTBP4' role as a regulator of TGFβ.
interpretationLTBP4 haplotype influences age at loss of ambulation, and should be considered in the management of DMD patients.
Indexed as
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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.