Genetic defects in muscular dystrophy.
作者： Kumaran Chandrasekharan , Paul T. Martin
DOI: 10.1016/S0076-6879(10)79017-0
关键词: Muscle weakness 、 Genetics 、 Bioinformatics 、 Muscular dystrophy 、 Phenotype 、 Dystroglycan 、 Mannose 、 ITGA7 、 Glycoprotein 、 Biology 、 Glycosylation
摘要: Abstract The muscular dystrophies are a group of neuromuscular disorders associated with muscle weakness and wasting, which in many forms can lead to loss ambulation premature death. A number proteins required for the maintenance membrane integrity, particular that comprise dystrophin-associated glycoprotein (DAG) complex. Proper glycosylation O-linked mannose chains on α-dystroglycan, DAG member, is binding extracellular matrix dystroglycan proper function. congenital have now been described where α-dystroglycan altered dystrophy predominant phenotype. Glycosylation also increasingly being appreciated as genetic modifier disease phenotypes target development new therapies. Here we will review mouse models available study this diseases outline methodologies describe phenotypes.
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