Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.
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.
Kolski
Hanna K
HK
Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada. hanna.kolski@capitalhealth.ca
Hawkins
Cynthia
C
Zatz
Mayana
M
de Paula
Flavia
F
Biggar
Doug
D
Alman
Ben
B
Vajsar
Jiri
J
D000293:Adolescent; D015153:Blotting, Western; D002154:Calpain / Q000378:metabolism*; D002648:Child; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009124:Muscle Proteins / Q000378:metabolism*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain