نتایج جستجو برای: muscular function
تعداد نتایج: 1248677 فیلتر نتایج به سال:
Incipient cardiac failure was detected in 56 per cent of cases of pseudohypertrophic muscular dystrophy, 50per cent oflimb girdle type ofmyopathies, and2 of the 3 cases with 'unclassifled' variety. 'Myopathic pattern' in the electrocardiogram was seen in 82 per cent of the cases of pseudohypertrophic muscular dystrophy who showed abnormal haemodynamics. This suggests that this pattern is due to...
Loss-of-function mutations in the Fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) and other forms of congenital muscular dystrophy-dystroglycanopathy that are associated with glycosylation defects in the α-dystroglycan (α-DG) protein. Systemic administration of a single dose of recombinant adeno-associated virus serotype 9 (AAV9) vector expressing human...
Muscular dystrophies are genetically diverse but share common phenotypic features of muscle weakness, degeneration, and progressive decline in muscle function. Previous work has focused on understanding how disruptions in the dystrophin-glycoprotein complex result in muscular dystrophy, supporting a hypothesis that the muscle sarcolemma is fragile and susceptible to contraction-induced injury i...
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature. Merosin deficient congenital muscular dystrophy (MDC1A) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2). Laminin-α2 is an extracellular matrix protein that...
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