ArticlePloS one2010
Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 1 of them a synthesis that pooled it.
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Who cites it
107 citing papers in PubMed, 1 synthesis or guideline pooled it, 195 citations in OpenAlex.
- Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis.Journal of neuromuscular diseases · 2023Pooled it
- Relationships betweenNeurology · 2019Trial
- The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.Neurology · 2018Trial
- Relationship Between Dp140 Genotype and Cortical Similarity Network Phenotype in Duchenne Muscular Dystrophy: Preliminary T1 Weighted Study.Journal of magnetic resonance imaging : JMRI · 2026Article
- Characterization of Dystrophin-Related Syndromes: Carriers, DMD, and BMD.Muscles (Basel, Switzerland) · 2026Review
- Neurological impairments in Duchenne muscular dystrophy: A comprehensive review.Acta neurologica Belgica · 2026Review
- The Multi-System Roles of Dp71 Dystrophin Isoforms in Duchenne Muscular Dystrophy.Muscles (Basel, Switzerland) · 2026Review
- Understanding the neurobehavioural impact of Duchenne muscular dystrophy: A multicentre European study.European child & adolescent psychiatry · 2026Article
- Dystrophinopathy with aPCN reports : psychiatry and clinical neurosciences · 2026Article
- Dystrophin-gene mutation location influences severity of electroretinogram defects in mouse models of Duchenne muscular dystrophy.BMC medicine · 2026Article
- Mutation of leucine 170 alters the subcellular distribution, neurite outgrowth and three-dimensional structure of dystrophins Dp71 and Dp40.Molecular biology reports · 2026Article
- Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy.Journal of neuromuscular diseases · 2026Review
- Article
- Behavioral improvement in dystrophicMolecular therapy. Nucleic acids · 2025Article
- Methylprednisolone Restores Cognitive Impairment in mdx Mice by Inhibiting NF-κB/CCL5-mediated Neuroinflammation.Molecular neurobiology · 2025Article
- Article
- Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy.Annals of clinical and translational neurology · 2025Article
- Understanding Duchenne muscular dystrophy-associated brain pathology.Disease models & mechanisms · 2025Review
- Living with Duchenne Muscular Dystrophy Beyond the Physical Implications: Cognitive Features, Psychopathology Aspects, and Psychosocial Resources-A Narrative Review.Brain sciences · 2025Review
- Deficient Astrocyte Homeostatic Support Contributes to Brain Impairment in Duchenne Muscular Dystrophy.Neurochemical research · 2025Review
47 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA significant component of the variation in cognitive disability that is observed in Duchenne muscular dystrophy (DMD) is known to be under genetic regulation. In this study we report correlations between standardised measures of intelligence and mutational class, mutation size, mutation location and the involvement of dystrophin isoforms. METHODS AND
resultsSixty two male subjects were recruited as part of a study of the cognitive spectrum in boys with DMD conducted at the Sydney Children's Hospital (SCH). All 62 children received neuropsychological testing from a single clinical psychologist and had a defined dystrophin gene (DMD) mutation; including DMD gene deletions, duplications and DNA point mutations. Full Scale Intelligence Quotients (FSIQ) in unrelated subjects with the same mutation were found to be highly correlated (r = 0.83, p = 0.0008), in contrast to results in previous publications. In 58 cases (94%) it was possible to definitively assign a mutation as affecting one or more dystrophin isoforms. A strong association between the risk of cognitive disability and the involvement of groups of DMD isoforms was found. In particular, improvements in the correlation of FSIQ with mutation location were identified when a new classification system for mutations affecting the Dp140 isoform was implemented. SIGNIFICANCE: These data represent one of the largest studies of FSIQ and mutational data in DMD patients and is among the first to report on a DMD cohort which has had both comprehensive mutational analysis and FSIQ testing through a single referral centre. The correlation between FSIQ results with the location of the dystrophin gene mutation suggests that the risk of cognitive deficit is a result of the cumulative loss of central nervous system (CNS) expressed dystrophin isoforms, and that correct classification of isoform involvement results in improved estimates of risk.
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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.