ArticleAnnals of clinical and translational neurology2019
Clinical and molecular findings in a cohort of ANO5-related myopathy.
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05102799 (MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants), which is not on this map. Cited by 21 papers, 2 of them syntheses 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.
MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Sex differences in the involvement of skeletal and cardiac muscles in myopathicAmerican journal of physiology. Cell physiology · 2022Pooled it
- FAP adipogenesis drives early spinal muscle loss in dysferlinopathy and reveals a therapeutic target.EMBO molecular medicine · 2026Article
- Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression.Journal of neurology · 2026Observational
- Article
- [Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients].Revista de neurologia · 2024Article
- A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review.Muscles (Basel, Switzerland) · 2023Review
- Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.Arquivos de neuro-psiquiatria · 2023Review
- Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient withGenes · 2023Article
- ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies.Genes & diseases · 2022Review
- Review
- Inflammatory myopathies: an update for neurologists.Arquivos de neuro-psiquiatria · 2022Review
- Article
- Novel Variants ofFrontiers in neurology · 2022Article
- MR imaging of inherited myopathies: a review and proposal of imaging algorithms.European radiology · 2021Review
- A Journey with LGMD: From Protein Abnormalities to Patient Impact.The protein journal · 2021Review
- Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia.Neurology. Genetics · 2021Article
- Prediction of Functional Consequences of Missense Mutations in ANO4 Gene.International journal of molecular sciences · 2021Article
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Late-onset myopathies: clinical features and diagnosis.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveANO5-related myopathy is an important cause of limb-girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients.
methodsA national cross-sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying recessive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied.
resultsThirty-seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseudometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCKemia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gastrocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants in ANO5 were identified, and the c.191dupA was present in 19 (56%) families. Sex, years of disease, and the presence of loss-of-function variants were not associated with specific phenotypes.
interpretationWe present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype.
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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.