X-linked dilated cardiomyopathy (XLDC) is a dystrophinopathy characterized by severe cardiomyopathy with no skeletal muscle involvement. Several XLDC patients have been described with mutations that abolish dystrophin muscle (M) isoform expression. The absence of skeletal muscle degeneration normally associated with loss of dystrophin function was shown to be due to increased expression of brai...

Duchenne type muscular dystrophy (DMD) is an allelic X-linked recessive disorder caused by mutations in the gene encoding dystrophin. Genotype analysis has shown that deletion mutations account for approximately 65% of all cases, and 5-10% are duplications, while the remaining 30% of affected individuals may have smaller mutations, including point mutations, small deletions or small insertions....

BACKGROUND Various endonucleases can be engineered to induce double-strand breaks (DSBs) in chosen DNA sequences. These DSBs are spontaneously repaired by nonhomologous-end-joining, resulting in micro-insertions or micro-deletions (INDELs). We detected, characterized and quantified the frequency of INDELs produced by one meganuclease (MGN) targeting the RAG1 gene, six MGNs targeting three intro...

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy during childhood. Mutations in dystrophin (DMD) gene are also recognized as a cause of cognitive impairment. We aimed to determine the association between intelligence level and mutation location in DMD genes in Serbian patients with DMD. Forty-one male patients with DMD, aged 3 to 16 years, were recruited at the Cl...

There are no detailed reports about the clinical and pathological findings in the central nervous system (CNS) of patients with Becker’s muscular dystrophy (BMD), although dysfunctions of the skeletal and cardiac muscles are well known in BMD. Since dystrophin is present in the CNS, and usual medical treatment is often influenced by CNS manifestations in patients, we studied the clinical and pa...

mutations in the dystrophin gene cause duchenne muscular dystrophy (dmd), the most commonly inherited neuromuscular disorder, and becker muscular dystrophy (bmd), the milder allelic form of the disease. the mutation spectrum within this gene is unusual in that deletion of one or more exons are found in ~65% of cases. since no effective treatment is so far available for these diseases, the ident...

duchenne muscular dystrophy (dmd), one of the most common and most severe hereditary muscle diseases, is transmitted as an x-linked recessive trait and is usually fetal before the third decade of life. dmd usually presents between the ages of 2 and 5 with severe, progressive muscle weakness and delayed motor milestones. muscle enzymes in the serum including creatine kinase levels are extremely ...

BACKGROUND & OBJECTIVES Duchenne (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders, caused by mutations in the dystrophin gene. Genetic diagnosis of the proband becomes crucial, and forms the base for carrier analysis, genetic counselling, prediction of natural history and prognosis, and eligibility for therapeutic strategies. Traditional multiplex PCR assay is the comm...

Objectives: Duchenne and Becker muscular dystrophies (DMD/BMD) are muscle diseases that show X-linked recessive inheritance. The disease occurs depending on large mutations, deletions/duplications, small point mutations mid-intronic of the gene encoding protein called dystrophin. Therefore, in this study, we aimed to investigate pathogenic variants DMD affected family. Methods: A 23-year-old ma...