نتایج جستجو برای: muscular dystrophies
تعداد نتایج: 45375 فیلتر نتایج به سال:
lead to muscular dystrophies: Duchenne/Becker dystrophy, associated to dystrophin protein defects, congenital dystrophy, due to laminin-2 absence, and sarcoglycanopathies, a subset of limb-girdle muscular dystrophies (LGMD) related to deficiency of the sarcoglycans (Straub & Campbell, 1997). Mutations in the α-sarcoglycan gene (Sgca), causing the lack or alterations of the protein, are responsi...
To test the hypothesis that human muscular dystrophies may be secondary to denervation, the responses in vitro of muscle in human malignant hyperpyrexia to electrical and pharmacological stimuli have been compared with those of the denervated mouse soleus muscle. The results suggest that the muscle abnormality in malignant hyperpyrexia is different from that produced by denervation. This must c...
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of ...
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