Single section Western blot: improving the molecular diagnosis of the muscular dystrophies.
Single section Western blot (SSWB) is an improved methodology for molecular diagnosis of the muscular dystrophies, requiring only a single 8-microm muscle biopsy cryosection for the simultaneous analysis of multiple disease candidates. The authors demonstrate that SSWB can be used for diagnosis of dystrophinopathies, to identify haploinsufficiency in autosomal dominant laminopathy, and as a tool to distinguish between primary and secondary immunohistochemical abnormalities in limb-girdle muscular dystrophy type 2B.
Cooper
Sandra T
ST
Institute for Neuromuscular Research, The Children's Hospital at Westmead, NSW, Australia.
Lo
Harriet P
HP
North
Kathryn N
KN
D001706:Biopsy; D015153:Blotting, Western / Q000379:methods*; D003937:Diagnosis, Differential; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009124:Muscle Proteins / Q000032:analysis*; D018482:Muscle, Skeletal / Q000737:chemistry* / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis*; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
D009124:Muscle Proteins