关键词: Central core myopathy Congenital myopathies Core-rod myopathy KBTBD13 LGMD Nemaline myopathy
Mesh : Aged BTB-POZ Domain / genetics Creatine Kinase / metabolism Green Fluorescent Proteins / genetics metabolism Humans Magnetic Resonance Imaging Male Microscopy, Electron Models, Molecular Muscle Proteins / genetics metabolism Muscle, Skeletal / metabolism pathology ultrastructure Muscular Dystrophies, Limb-Girdle / diagnostic imaging genetics pathology physiopathology Mutation / genetics NAD / metabolism Tomography Scanners, X-Ray Computed
来 源:
DOI:10.1186/s40478-018-0595-0
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