Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments

Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (DMD). Several therapeutic strategies are currently...

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Detalles Bibliográficos
Autores principales: Braga, Vitor Lucas Lopes, Lima, Danielle Pessoa, Mariano, Tamiris Carneiro, Lima, Pedro Lucas Grangeiro de Sá Barreto, Maia, Ana Beatriz de Almeida, da Silva Meireles, Wallace William, de Oliveira Pessoa, Kécia Tavares, de Oliveira, Cristiane Mattos, Ribeiro, Erlane Marques, Nóbrega, Paulo Ribeiro, Pessoa, André Luiz Santos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10669865/
https://www.ncbi.nlm.nih.gov/pubmed/38002481
http://dx.doi.org/10.3390/brainsci13111521

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10669865/
https://www.ncbi.nlm.nih.gov/pubmed/38002481
http://dx.doi.org/10.3390/brainsci13111521

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