Duchenne muscular dystrophy
SaudiVarKB evidence summary derived from retained literature mentions.
39Phenotype mentions
39Publications
35Associated gene records
6Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| COL6A1 | HGNC:2211 | 2 | 2 |
| CFTR | HGNC:1884 | 2 | 2 |
| MYH3 | HGNC:7573 | 2 | 2 |
| COL1A1 | HGNC:2197 | 1 | 1 |
| COL1A2 | HGNC:2198 | 1 | 1 |
| SMCHD1 | HGNC:29090 | 1 | 1 |
| DOCK8 | HGNC:19191 | 1 | 1 |
| STAT3 | HGNC:11364 | 1 | 1 |
| PLEC | HGNC:9069 | 1 | 1 |
| GAD1 | HGNC:4092 | 1 | 1 |
| SLC17A7 | HGNC:16704 | 1 | 1 |
| COL3A1 | HGNC:2201 | 1 | 1 |
| LMNA | HGNC:6636 | 1 | 1 |
| PGM3 | HGNC:8907 | 1 | 1 |
| GAA | HGNC:4065 | 1 | 1 |
| COL6A3 | HGNC:2213 | 1 | 1 |
| SMN1 | HGNC:11117 | 1 | 1 |
| POSTN | HGNC:16953 | 1 | 1 |
| TIMP1 | HGNC:11820 | 1 | 1 |
| THBS2 | HGNC:11786 | 1 | 1 |
| CAPN3 | HGNC:1480 | 1 | 1 |
| SGCA | HGNC:10805 | 1 | 1 |
| SGCG | HGNC:10809 | 1 | 1 |
| FBXO32 | HGNC:16731 | 1 | 1 |
| FLNC | HGNC:3756 | 1 | 1 |
| LAMA2 | HGNC:6482 | 1 | 1 |
| TTN | HGNC:12403 | 1 | 1 |
| RYR1 | HGNC:10483 | 1 | 1 |
| VCP | HGNC:12666 | 1 | 1 |
| ANO5 | HGNC:27337 | 1 | 1 |
| PKP2 | HGNC:9024 | 1 | 1 |
| SNTA1 | HGNC:11167 | 1 | 1 |
| SMAD3 | HGNC:6769 | 1 | 1 |
| DTNA | HGNC:3057 | 1 | 1 |
| NOS1 | HGNC:7872 | 1 | 1 |
Associated variant records
Co-mentioned in the same publicationsAssociated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 3 | 3 |
| Population record | Cohort 17 | 1 | 1 |
| Population record | — | 1 | 1 |
| Population record | Cohort 18 | 1 | 1 |
| Saudi Arabia · Riyadh | — | 1 | 1 |
| Saudi Arabia | Cohort 226 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 14 | 1 | 1 |
| Population record | Cohort 4 | 1 | 1 |
| Population record | Cohort 32 | 1 | 1 |
| Saudi Arabia | Cohort 177 | 1 | 1 |
| Population record | Cohort 71 | 1 | 1 |
| Saudi Arabia | Cohort 45 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 41 | 1 | 1 |
Supporting publications
39 records- 2026Expanding the Potential of Gene Therapy for Duchenne Muscular Dystrophy.Current pharmaceutical design1 mentions
- 2026CRISPR Gene Editing for Nucleotide Repeat Expansion Disorders: A Systematic Review of Preclinical and Clinical Evidence.Genetic testing and molecular biomarkers1 mentions
- 2026Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia.Healthcare (Basel, Switzerland)1 mentions
- 2026Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.Frontiers in public health1 mentions
- 2025A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy.Frontiers in genetics1 mentions
- 2025A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain.Acta neuropathologica communications1 mentions
- 2025Unlocking the potential: advancements and applications of gene therapy in severe disorders.Annals of medicine1 mentions
- 2025Decoding Myosin-3 mutational hotspots: Linking deleterious variants to Duchenne muscular dystrophy severity and psychiatric comorbidities.PloS one1 mentions
- 2025The Utilization, Reimbursement, and Cost of Targeted Therapies for Duchenne Muscular Dystrophy (DMD) in US Medicaid Programs: A Descriptive Trend Analysis from 2017 to 2022.Pharmaceutical medicine1 mentions
- 2025Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy.Cureus1 mentions
- 2024Discovering Promising Biomarkers and Therapeutic Targets for Duchenne Muscular Dystrophy: a Multiomics Meta-Analysis Approach.Molecular neurobiology1 mentions
- 2024A review on mechanistic insights into structure and function of dystrophin protein in pathophysiology and therapeutic targeting of Duchenne muscular dystrophy.International journal of biological macromolecules1 mentions
- 2024Exploring lipin1 as a promising therapeutic target for the treatment of Duchenne muscular dystrophy.Journal of translational medicine1 mentions
- 2024Duchenne muscular dystrophy in Saudi Arabia: a review of the current literature.Frontiers in neurology1 mentions
- 2024Exploring novel natural compound-based therapies for Duchenne muscular dystrophy management: insights from network pharmacology, QSAR modeling, molecular dynamics, and free energy calculations.Frontiers in pharmacology1 mentions
- 2024Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.The Journal of international medical research1 mentions
- 2022Dystrophin Protein Quantification as a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study.Molecules (Basel, Switzerland)1 mentions
- 2022Association of electrocardiographic markers with myocardial fibrosis as assessed by cardiac magnetic resonance in different clinical settings.World journal of cardiology1 mentions
- 2022Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond.Journal of neuromuscular diseases1 mentions
- 2022Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia.Frontiers in pediatrics1 mentions
- 2021Autism medical comorbidities.World journal of clinical pediatrics1 mentions
- 2021Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East.Frontiers in pediatrics1 mentions
- 2020Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.Journal of comparative effectiveness research1 mentions
- 2019Current management of Duchenne muscular dystrophy in the Middle East: expert report.Neurodegenerative disease management1 mentions
- 2019Reliability and validity of the turkish translation of pedsqlTM multidimensional Fatigue scale in Duchenne Muscular Dystrophy.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2018How do physical capacity, fatigue and performance differ in children with duchenne muscular dystrophy compared with their healthy peers?Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2018Pectoralis blocks for insertion of an implantable cardioverter defibrillator in two patients with Duchenne muscular dystrophy.Saudi journal of anaesthesia1 mentions
- 2018Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.Human genomics1 mentions
- 2018Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.Biosensors & bioelectronics1 mentions
- 2018Multiplexed detection of DOCK8, PGM3 and STAT3 proteins for the diagnosis of Hyper-Immunoglobulin E syndrome using gold nanoparticles-based immunosensor array platform.Biosensors & bioelectronics1 mentions
- 2017The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.Journal of human genetics1 mentions
- 2016Duane retraction syndrome in a patient with Duchenne muscular dystrophy.Ophthalmic genetics1 mentions
- 2015Stem Cell Differentiation Toward the Myogenic Lineage for Muscle Tissue Regeneration: A Focus on Muscular Dystrophy.Stem cell reviews and reports1 mentions
- 2010Deletion mutations in Duchenne muscular dystrophy (DMD) in Western Saudi children.Saudi journal of biological sciences1 mentions
- 2006Drug evaluation: PTC-124--a potential treatment of cystic fibrosis and Duchenne muscular dystrophy.IDrugs : the investigational drugs journal1 mentions
- 2002Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.Saudi medical journal1 mentions
- 2001In situ measurements of muscle fiber conduction velocity in Duchenne muscular dystrophy.Saudi medical journal1 mentions
- 2000Power spectrum analysis and conventional electromyogram in Duchenne muscular dystrophy.Saudi medical journal1 mentions
- 1996Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia.Developmental medicine and child neurology1 mentions