نتایج جستجو برای: duchenne
تعداد نتایج: 8037 فیلتر نتایج به سال:
Genetic modifiers of ambulation in the CINRG duchenne natural history study.
Objetivo: Analisar as características da Distrofia Muscular de Duchenne (DMD). Revisão bibliográfica: A DMD é a distrofia muscular infantil mais comum em todo o mundo, sendo uma doença recessiva ligada ao X, causada por mutações no gene que codifica distrofina, afetando 1 3.500 5.000 meninos. distrofina grande proteína do citoesqueleto facilita interações entre citoesqueleto, membrana celular e...
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...
Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy ...
Bach JR, DeCicco A: Forty-eight years with Duchenne muscular dystrophy. Am J Phys Med Rehabil 2011;90:868Y870.
Duchenne muscular dystrophy is clinically characterised by progressive muscle weakness and a gradual increase in the size of some affected muscles, especially calf muscles. The extent of calf enlargement is usually determined by subjective visual assessment. The purpose of this study was to determine the extent of calf muscle enlargement in Duchenne muscular dystrophy (DMD) patients compared wi...
We have investigated an extended pedigree with three cousins affected by Duchenne muscular dystrophy with apparent transmission through the male line. However, molecular studies have shown that one boy has a de novo duplication, another has a deletion, and the molecular mutation has yet to be defined in the third boy. All three X chromosomes in the affected boys appear to have a different origi...
Pulmonary complications including chest infections, atelectasis, pulmonary hypoplasia and ventilatory failure are the leading cause of death in the muscular dystrophies and atrophies. Ventilatory insufficiency is virtually inevitable in Duchenne muscular dystrophy and type 1 spinal muscular atrophy (SMA), but more variable in limb-girdle, congenital, and facioscapulohumeral muscular dystrophy. ...
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