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Single section Western blot

Improving the molecular diagnosis of the muscular dystrophies

From the Institute for Neuromuscular Research (Drs. Cooper and North, and H.P. Lo), The Children’s Hospital at Westmead; and Department of Paediatrics and Child Health (H.P. Lo and Dr. North), University of Sydney, Australia.

Address correspondence and reprint requests to Professor Kathryn N. North, Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Australia; e-mail: Kathryn{at}chw.edu.au

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.

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