title: Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.
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.
authors.affiliation: Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada. hanna.kolski@capitalhealth.ca
authors.forename: Hanna K
authors.initials: HK
authors.lastname: Kolski
authors.forename: Cynthia
authors.initials: C
authors.lastname: Hawkins
authors.forename: Mayana
authors.initials: M
authors.lastname: Zatz
authors.forename: Flavia
authors.initials: F
authors.lastname: de Paula
authors.forename: Doug
authors.initials: D
authors.lastname: Biggar
authors.forename: Ben
authors.initials: B
authors.lastname: Alman
authors.forename: Jiri
authors.initials: J
authors.lastname: Vajsar
mesh_terms: 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
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain