Single section Western blot: improving the molecular diagnosis of the muscular dystrophies

ST Cooper, HP Lo, KN North - Neurology, 2003 - AAN Enterprises
ST Cooper, HP Lo, KN North
Neurology, 2003AAN Enterprises
Single section Western blot (SSWB) is an improved methodology for molecular diagnosis of
the muscular dystrophies, requiring only a single 8-μm 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.
Single section Western blot (SSWB) is an improved methodology for molecular diagnosis of the muscular dystrophies, requiring only a single 8-μm 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.
American Academy of Neurology