Article

Genetic and Clinical Landscape of Duchenne Muscular Dystrophy in Guatemala: Insights from a National Study

2025-03-20

Abstract excerpt

<title>Abstract</title> <p>Duchenne muscular dystrophy (DMD) is a severe X-linked disorder caused by mutations in the <italic>DMD</italic> gene, with a global prevalence of 3.6 per 100,000 people. Despite its well-documented genetic basis, no previous studies have characterised DMD in Guatemala. We analysed 33 genetically confirmed cases to estimate prevalence, describe the mutation spectrum, and assess clinical...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5c154476-7c55-54fa-9c38-f73c0cf0adf7
DOI: 10.21203/rs.3.rs-5556317/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic and Clinical Landscape of Duchenne Muscular Dystrophy in Guatemala: Insights from a National StudyDOI 10.21203/rs.3.rs-5556317/v2Read

EMQN best practice guidelines for genetic testing in dystrophinopathiesSemantic proximity Read

Comprehensive analysis of 2097 Patients with Dystrophinopathy Based on a Database From 2011 to 2021Semantic proximity Read

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in JapanSemantic proximity Read

Clinical spectrum and genetic landscape of duchenne muscular dystrophy in Azerbaijan.Semantic proximity Read

[Clinical practice guidelines for Duchenne muscular dystrophy].Semantic proximity Read

Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variantsSemantic proximity Read

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Semantic proximity Read

The importance of genetic diagnosis for Duchenne muscular dystrophySemantic proximity Read

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.Semantic proximity Read

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.Semantic proximity Read

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.Semantic proximity Read

Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy.Semantic proximity Read