dystrophy肌营养不良症ppt课件.pptVIP

Western Blot of Dystrophin Lane 1: BMD; Dystrophin has reduced abundance but normal size. Lane 2: BMD; Dystrophin has reduced size and abundance. Lane 3: normal; Dystrophin has normal size and amount. Lane 4: DMD; Almost no protein is present. Lane 5: outlier; Dystrophin has severely reduced abundance Diagnosis XR inheritance pattern( positive family history) Typical clinical presentation Serum muscle enzymes: CK, LDH, AST, ALT Electromyography: Myopathic Muscle biopsy Classical histopathology Dystrophin staining Gene testing: PCR or point mutation screening Differential Diagnosis1 S