ArticleJournal of neuromuscular diseases2016
Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.
Article in Journal of neuromuscular diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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
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Who cites it
8 citing papers in PubMed, 2 syntheses or guidelines pooled it, 9 citations in OpenAlex.
- Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.Journal of orthopaedic surgery and research · 2022Pooled it
- Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis.Orphanet journal of rare diseases · 2020Pooled it
- Article
- Duchenne and Becker Muscular Dystrophies' Prevalence in MD STARnet Surveillance Sites: An Examination of Racial and Ethnic Differences.Neuroepidemiology · 2021Article
- Theragnosis for Duchenne Muscular Dystrophy.Frontiers in pharmacology · 2021Article
- Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.The application of clinical genetics · 2021Article
- Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.Human mutation · 2020Article
- Genotype-phenotype correlation in Becker muscular dystrophy in Chinese patients.Journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundDuchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse.
objectiveTo establish the prevalence and genetic profile of DMD and BMD in Puerto Rico.
methodsWe collected data from medical records in all Muscular Dystrophy Association (MDA) clinics in Puerto Rico in order to estimate the prevalence of DMD and BMD and to describe the genotypic profile of these patients. Patients selected for data analysis matched "definite", "probable" and "possible" case definitions as established by MD STARnet.
resultsA total of 141 patients matched the inclusion criteria, with 64.5% and 35.5% being categorized into DMD and BMD, respectively. DMD and BMD prevalence in Puerto Rico was estimated at 5.18 and 2.84 per 100,000 males, respectively. Deletion was the most common form of mutation (66.7%) in the dystrophin gene, with exons in segment 45 to 47 being the most frequently affected.
conclusionsThis is the first report of the prevalence and genetic profile characteristics of DMD and BMD in Puerto Rico. Prevalence of DMD was similar to that reported worldwide, while prevalence of BMD was higher. Genetic profile was consistent with that reported in the literature.
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Registered trials
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