Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessingSPP1andLTBP4variants
نویسندگان
چکیده
منابع مشابه
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
OBJECTIVE Duchenne muscular dystrophy (DMD) is characterised by progressive muscle weakness. It has recently been reported that single nucleotide polymorphisms (SNPs) located in the SPP1 and LTBP4 loci can account for some of the inter-individual variability observed in the clinical disease course. The validation of genetic association in large independent cohorts is a key process for rare dise...
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OBJECTIVE Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM hapl...
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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...
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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...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2014
ISSN: 0022-3050,1468-330X
DOI: 10.1136/jnnp-2014-308409