ArticleJournal of neuromuscular diseases2015
The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.
Article in Journal of neuromuscular diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
49 citing papers in PubMed, 113 citations in OpenAlex.
- Safety, Tolerability, Pharmacokinetics, Food Effect of Ribitol, and Its Effect on QTcF in Healthy Adults: First-in-Human, Randomized, Double-Blind (Sponsor Unblinded), Placebo-Controlled Studies.Clinical pharmacology in drug development · 2026Trial
- Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.Nature medicine · 2024Trial
- User-centred assistive SystEm for arm Functions in neUromuscuLar subjects (USEFUL): a randomized controlled study.Journal of neuroengineering and rehabilitation · 2021Trial
- Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region.Italian journal of pediatrics · 2026Article
- Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9.Neurology. Genetics · 2026Article
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice.The Journal of clinical investigation · 2025Article
- Article
- From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb-Girdle Muscular Dystrophy Diagnosis.Health expectations : an international journal of public participation in health care and health policy · 2025Article
- Dysregulated ATX-LPA and YAP/TAZ signaling in dystrophic SgcdSkeletal muscle · 2025Article
- TheActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2024Review
- Constructing networks for comparison of collagen types.Journal of integrative bioinformatics · 2024Article
- Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies.Journal of muscle research and cell motility · 2024Article
- Anesthetic Challenges of a Patient With Limb-Girdle Muscular Dystrophy in a Patient With Colon Cancer.Cureus · 2024Article
- Pharmacological Treatments and Therapeutic Targets in Muscle Dystrophies Generated by Alterations in Dystrophin-Associated Proteins.Medicina (Kaunas, Lithuania) · 2024Review
- Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.Orphanet journal of rare diseases · 2024Article
- Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.Annals of clinical and translational neurology · 2023Article
- Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.Arquivos de neuro-psiquiatria · 2023Review
- Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche.Molecular therapy. Nucleic acids · 2023Article
- Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over sixty years ago John Walton and Frederick Nattrass defined limb girdle muscular dystrophy (LGMD) as a separate entity from the X-linked dystrophinopathies such as Duchenne and Becker muscular dystrophies. LGMD is a highly heterogeneous group of very rare neuromuscular disorders whose common factor is their autosomal inheritance. Sixty years later, with the development of increasingly advanced molecular genetic investigations, a more precise classification and understanding of the pathogenesis is possible.To date, over 30 distinct subtypes of LGMD have been identified, most of them inherited in an autosomal recessive fashion. There are significant differences in the frequency of subtypes of LGMD between different ethnic populations, providing evidence of founder mutations. Clinically there is phenotypic heterogeneity between subtypes of LGMD with varying severity and age of onset of symptoms. The first natural history studies into subtypes of LGMD are in process, but large scale longitudinal data have been lacking due to the rare nature of these diseases. Following natural history data collection, the next challenge is to develop more effective, disease specific treatments. Current management is focussed on symptomatic and supportive treatments. Advances in the application of new omics technologies and the generation of large-scale biomedical data will help to better understand disease mechanisms in LGMD and should ultimately help to accelerate the development of novel and more effective therapeutic approaches.
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Identifiers
What Socratic 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 Socratic graph.