DNA markers and Duchenne muscular dystrophy.
نویسندگان
چکیده
منابع مشابه
Duchenne muscular dystrophy An overview of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) affects approximately 1 in 3,500 live male births [1]. It is caused by a large variety of mutations in the dystrophin gene. Because of these mutations, the body can no longer make dystrophin which is a protein important for stabilisation of the muscle cell during a contraction. Without dystrophin, muscle cells are damaged and slowly replaced by fat and scar tis...
متن کاملP164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
متن کاملBone markers and bone mineral density in Duchenne muscular dystrophy.
All bone formation markers were significantly lower in the patient group compared with the control group; BALP (p=0.002), PINP (p<0.001) and OC (p<0.001). Significantly lower values for the bone resorption markers CTX (p<0.001) and TRACP5b (p=0.002) were also observed, however, not for ICTP (p=0.087). The CTX/TRACP5b quotient (a suggested index of the osteoclast activity in relation to the numb...
متن کاملHuman X chromosome markers and Duchenne muscular dystrophy.
Two DNA markers, a random DNA fragment 754 and the cDNA sequence encoding the gene for ornithine transcarbamylase (OTC) have been studied in kindreds segregating for Duchenne muscular dystrophy. 754 and OTC are located close physically to the mutation in the region Xp21 below the breakpoints in two Duchenne females. The genetic distance was found to be approximately 10cM between 754 and DMD (tw...
متن کاملDuchenne muscular dystrophy.
Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1984
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.59.3.195