The transforming growth factor beta (TGFβ) pathway could modulate the Duchenne
muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association …

Objective Duchenne muscular dystrophy (DMD) is characterised by progressive muscle
weakness. It has recently been reported that single nucleotide polymorphisms (SNPs) …

Background: Duchenne muscular dystrophy (DMD) is a fatal, X-linked recessive muscle
disorder characterized by heterogeneous progression and severity. We aimed to study the …

Background: Clinical course variability in Duchenne muscular dystrophy (DMD) is partially
explained by the mutation location in the DMD gene and variants in modifier genes. We …

Objective Dilated cardiomyopathy (DCM) is a major complication and leading cause of
death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier …

Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes
different from the disease-causing gene DMD, but associated with differences in disease …

Background In the search of genetic determinants of Duchenne muscular dystrophy (DMD)
severity, LTBP4, a member of the latent TGF-β binding protein family, emerged as an …

Background Duchenne muscular dystrophy (DMD) is the most common genetic muscle
disease in human. We aimed to describe the genotype distribution in a large cohort of …

Objective Duchenne muscular dystrophy (DMD) is a severe X‐linked recessive disease
caused by loss‐of‐function dystrophin (DMD) mutations in boys, who typically suffer loss of …

The expressivity of Mendelian diseases can be influenced by factors independent from the
pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of …