Objective: Dystrophinopathies are the most frequently researched neuromuscular disease group due to their characteristic and diverse clinical genetic spectrum. This study aims evaluate deletion duplication profile of dystrophin gene in Turkey by investigating data from a tertiary center. Material Methods: Dystrophin MLPA microarray results 53 patients, 49 with dystrophinopathy 4 neurogenetic sy...

Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six female relatives, and two myopathic female patients in Korea. As the methods developed, we applied different procedures for dystrophin gene analysis; initially, multiplex polymerase chain reaction was...

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to complete clinical evaluation pedigree analysis, electromyography studies, estimation of serum creatine phos...

Mutations of the dystrophin DMD gene, essentially deletions of one or several exons, are the cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker (BMD) muscular dystrophies. Depending upon the preservation or not of the reading frame, dystrophin is completely absent in DMD, or present in either a mutated or a truncated form in BMD. DMD is a severe disease which lea...

Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder for which there is currently no effective treatment. This disorder is caused by mutations or deletions in the gene encoding dystrophin that prevent expression of dystrophin at the sarcolemma. A promising pharmacological treatment for DMD aims to increase levels of utrophin, a homolog of dystrophin, in muscle fibers of affecte...

Introduction The integrity of the animal cell membrane is believed to be maintained in part by the large (approx. 400 kDa) cytoskeletal proteins dystrophin and utrophin. Both proteins are capable of forming a link, probably flexible and potentially extensible/compressible, between the actin cytoskeleton and the cell membrane itself. Utrophin is expressed in all cell types, whereas dystrophin ex...

The genetic defects responsible for the allelic disorders of BMD and the more severe DMD have been shown to be mutations within the dystrophin gene, which encodes a 14 kb transcript. We describe here a BMD patient who belongs to a small class of subjects with large in frame deletions of the dystrophin gene that remove apparently dispensable coding sequence, thereby producing functional truncate...

-We present two cases of autosomal dominant limb girdle muscular dystrophy in a father and son. Both presented in childhood with a classical Becker muscular dystrophy phenotype. The father had initially been informed that he would not have affected children. After the diagnosis of muscular dystrophy in the son, immunoblot analysis was performed on muscle and revealed normal dystrophin. The poly...

Duchenne muscular dystrophy (DMD) is caused by mutation in the dystrophin gene. In DMD, only male carrying the mutated DMD gene is affected while female becomes carrier of the disease because of the X-linked recessive characteristics of the disorder. About one-third of DMD cases show de novo mutations, while the rest are inherited through carrier others or arise from germlinemosaicism. The reco...

Eighty-four unrelated patients with Duchenne or Becker muscular dystrophy in Japan were studied by quantitative Southern blot analysis with dystrophin cDNA probes. We found partial deletions and duplications in 47 (56%) and 12 (14%) cases respectively by HindIII digestion. The duplications were confirmed by BglII digestion and densitometric scanning. The frequency of duplications in this study ...