title: Single section Western blot: improving the molecular diagnosis of the muscular dystrophies.
abstract: 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.
authors.affiliation: Institute for Neuromuscular Research, The Children's Hospital at Westmead, NSW, Australia.
authors.forename: Sandra T
authors.initials: ST
authors.lastname: Cooper
authors.forename: Harriet P
authors.initials: HP
authors.lastname: Lo
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
mesh_terms: 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
chemical_list: D009124:Muscle Proteins