关键词: Congenital titinopathy Electron microscopy study Histochemical staining Minigene Multi-minicore disease TTN
Mesh : Connectin / genetics Female HEK293 Cells Humans In Vitro Techniques Infant Magnetic Resonance Imaging Microscopy, Electron Muscle Hypotonia / physiopathology Muscle, Skeletal / diagnostic imaging pathology Myopathies, Structural, Congenital / diagnostic imaging genetics pathology physiopathology Ophthalmoplegia / diagnostic imaging genetics pathology physiopathology RNA Splice Sites / genetics RNA, Messenger / metabolism Ryanodine Receptor Calcium Release Channel / deficiency genetics Scoliosis / diagnostic imaging physiopathology Twins
来 源:
DOI:10.1016/j.nmd.2019.03.007
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