关键词: dystroglycan dystroglycanopathies missense mutations molecular analysis protein domains
Mesh : Basement Membrane / metabolism Cognitive Dysfunction / genetics pathology Cytoskeleton / genetics Dystroglycans / genetics Glycosylation Humans Muscle, Skeletal / metabolism pathology Muscular Dystrophies / genetics pathology Mutation / genetics
来 源:
DOI:10.1111/jcmm.14218
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