Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. S Afr Med J 2013;103(12):999-1004. [http://dx.doi.org/10.7196/samj.7274]Kerr R, Robinson C, Essop FB, Krause A. Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa...
Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot nationa... The objectives of this study were to evaluate a novel semiquantitative application of the bioluminescence test for screening newborns for Duchenne...
Duchenne muscular dystrophy and Becker muscular dystrophy: Aetna considers DMD gene testing medically necessary when the following criteria are met: Carrier screening when the individual to be tested is an asymptomatic female and has an affected blood relative in whom a disease-causing DMD or BMD mut...
Objective: To evaluate the use of multiple displacement amplification (MDA) in preimplantation genetic diagnosis (PGD) for Duchenne muscular dystrophy (DMD). Materials/Methods: Ten short tandem repeats (STR) markers within the dystrophin gene were used for haplotype analysis in four DMD families. ...
Duchenne muscular dystrophy (DMD) is the most common sex linked lethal disease in man (one case in about 4000 male live births). The patients are wheelchai
Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progressive weakness. There is considerable inter-patient variability in disease onset and progression, which can confound the results of clinical trials. Here we show that a common null polymorphism (R577X) inACTN3results...
The rndx mouse has played a critical role in the development DMD, Duchenne muscular dystrophy of new cellular transplantation and gene therapies (12, 13). The number of dystrophin-positivemuscle cells before and after the experimental maneuvers is useful for assessing the efficacy of these ...
One of the trickiest questions of all concerns Duchenne muscular dystrophy, a degenerative illness that starts in childhood. Screening for this would find it in six of every 100,000 children tested. But only a small number of these have forms of the disease that can currently be treated, and...
Using a novel genetic 'editing' technique, Duke University biomedical engineers have been able to repair a defect responsible for one of the most common inherited disorders, Duchenne muscular dystrophy, in cell samples from Duchenne patients.
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the dystrophin gene and is characterized by muscle degeneration a... F Giliberto,CP Radic,L Luce,... - 《Journal of the Neurological Sciences》 被引量: 50发表: 2014年 Somatic mosaicism for a deletion ...