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- W1970286608 abstract "Diagnosis of limb girdle muscular dystrophy type 2A can be complex due to phenotypic variability, accuracy of protein analysis in muscle biopsies, and lack of mutational hot spots in the CAPN3 gene. The aim of the study was to review clinical and biopsy data from a group of patients with known CAPN3 genetic status to validate and refine our current diagnostic strategy, which combines clinical information and protein analysis to direct gene testing. We analysed 85 patients in whom CAPN3 gene sequencing had been performed. Forty-two had two confirmed mutations, in 15 only one, and in 28 no mutation was detected. We identified clinical features that, in combination, clearly discriminated the LGMD2A patients. These were: presence of scapular winging, contractures and normal respiratory function. Also, a typical pattern of muscle weakness on manual testing could be confirmed. Interpretation of protein expression obtained by Western blot was complex and involved the analysis of a number of bands detected by our two antibodies for calpain 3. Loss of all calpain 3 bands was 100% specific for LGMD2A, but present in only 23% of mutation positive patients. Absence or reduction of the 60-kDa band was also highly specific for LGMD2A, while its increased abundance was highly predictive of no mutations being found even where other bands are reduced, suggesting this is a sensitive marker of artefactual protein degradation. Twenty-three percent of the patients with two mutations had normal full-sized calpain 3 protein, which was consistent with mutations localised in parts of the gene likely or proven to be involved in autolytic activity. Clinical and biochemical findings in patients with only one mutation were similar to patients with two mutations, indicating that other gene analysis techniques should be used before excluding the diagnosis. Our analysis confirms that our strategy is still valid to prioritise genetic testing." @default.
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- W1970286608 date "2007-10-01" @default.
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- W1970286608 title "G.P.4.12 Analysis of the diagnostic strategy for limb girdle muscular dystrophy 2A in the UK" @default.
- W1970286608 doi "https://doi.org/10.1016/j.nmd.2007.06.104" @default.
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