ArticleJournal of neuromuscular diseases2022
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Article in Journal of neuromuscular diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Pooled it
- Exploring the relationship betweenFrontiers in neuroscience · 2023Pooled it
- Postsynaptic Congenital Myasthenic Syndrome Mimicking Limb-Girdle Muscular Dystrophy Associated with an Alternatively Spliced Exon in CHRNB1: A Case Report and Literature Review.Children (Basel, Switzerland) · 2026Article
- Pan-cancer analysis identifies FKBP10 as a regulator of tumor immunosuppression and therapeutic response.Translational oncology · 2026Article
- PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping.Current issues in molecular biology · 2026Review
- Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.Scientific reports · 2025Article
- Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.Iranian journal of public health · 2025Review
- Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium.Orphanet journal of rare diseases · 2025Article
- A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy.Journal of cellular and molecular medicine · 2025Article
- De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.Genes & genomics · 2025Article
- Nemaline Myopathy Type 6 Caused by Variants in theNeurology. Genetics · 2024Article
- Review
- Targeting Nrf2/PHKG2 axis to enhance radiosensitivity in NSCLC.NPJ precision oncology · 2024Article
- Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.Orphanet journal of rare diseases · 2024Article
- A novel compound heterozygous variant ofFrontiers in neurology · 2024Article
- A challenging interplay between basic research, technologies and medical education to provide therapies based on disease mechanisms.Frontiers in medicine · 2024Article
- Identification and experimental validation of hub genes underlying depressive-like behaviors induced by chronic social defeat stress.Frontiers in pharmacology · 2024Article
- The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research.Journal of neuromuscular diseases · 2024Article
- Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.Neurology. Genetics · 2023Article
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Authors and funding
23 authors at 12 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundClinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce.
objectiveThis study aims to provide a retrospective overview of hereditary NMDs based on our clinical consultations in Lebanon.
methodsClinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999-2019) was reviewed.
resultsA total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes were identified. In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). We estimate a high SMA incidence of 1 in 7,500 births in Lebanon. Duchenne and Becker muscular dystrophy were the second most frequently diagnosed NMDs (17% of patients). These disorders were associated with the highest number of variants (39) identified in this study. A highly heterogeneous presentation of Limb Girdle Muscular Dystrophy and Charcot-Marie-Tooth disease was notably identified. The least common disorders (5.5% of patients) involved congenital, metabolic, and mitochondrial myopathies, congenital myasthenic syndromes, and myotonic dystrophies. A review of the literature for selected NMDs in Lebanon is provided.
conclusionsOur study indicates a high prevalence and underreporting of heterogeneous forms of NMDs in Lebanon- a major challenge with many novel NMD treatments in the pipeline. This report calls for a regional NMD patient registry.
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