Artículos de revistas
Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques
Date
2008Registration in:
NEUROPATHOLOGY, v.28, n.3, p.264-268, 2008
0919-6544
10.1111/j.1440-1789.2007.00871.x
Author
KOLSKI, Hanna K.
HAWKINS, Cynthia
ZATZ, Mayana
PAULA, Flavia de
BIGGAR, Doug
ALMAN, Ben
VAJSAR, Jiri
Institutions
Abstract
The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). This is the first report in the English literature of the successful application of immunohistochemical techniques to support a diagnosis of LGMD 2A. This approach is straightforward and appears to be reasonably specific. We propose that immunohistochemical methods should be re-evaluated for the screening of undiagnosed patients with suspected LGMD 2A.