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

Higher Prevalence of Nonsense Pathogenic <i>DMD</i> 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 <i>DMD,</i> the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (<i>DMD</i>). Several...

Full description

Bibliographic Details
Main Authors: Vitor Lucas Lopes Braga, Danielle Pessoa Lima, Tamiris Carneiro Mariano, Pedro Lucas Grangeiro de Sá Barreto Lima, Ana Beatriz de Almeida Maia, Wallace William da Silva Meireles, Kécia Tavares de Oliveira Pessoa, Cristiane Mattos de Oliveira, Erlane Marques Ribeiro, Paulo Ribeiro Nóbrega, André Luiz Santos Pessoa
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:Brain Sciences
Subjects:
neuromuscular diseases
dystrophin
Duchenne muscular dystrophy
muscular dystrophies
myopathy
therapeutics
Online Access:https://www.mdpi.com/2076-3425/13/11/1521

Internet

https://www.mdpi.com/2076-3425/13/11/1521

Similar Items