Premium
Diagnosis of limb‐girdle muscular dystrophy 2A by immunohistochemical techniques
Author(s) -
Kolski Hanna K.,
Hawkins Cynthia,
Zatz Mayana,
De Paula Flavia,
Biggar Doug,
Alman Ben,
Vajsar Jiri
Publication year - 2008
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2007.00871.x
Subject(s) - muscular dystrophy , limb girdle muscular dystrophy , medicine , immunohistochemistry , anatomy , pathology , biology , mutation , genetics , gene
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.