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Diagnosis of limb‐girdle muscular dystrophy 2A by immunohistochemical techniques |
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| Authors: | Hanna K. Kolski Cynthia Hawkins Mayana Zatz Flavia De Paula Doug Biggar Ben Alman Jiri Vajsar |
| Affiliation: | 1. The Hospital for Sick Children, Toronto, and;2. Human Genome Research Center, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil;3. Bloorview-MacMillan Center, Toronto, Ontario, Canada, and |
| 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. |
| Keywords: | calpain‐3 immunohistochemistry limb girdle muscular dystrophy 2A myopathy Western blot |