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• W2057100949 abstract "The clinical features in patients with Bethlem myopathy (BM) overlap with other contractural phenotypes, in particular Emery Dreifuss muscular dystrophy, as well as some limb girdle muscular dystrophies, making it difficult to diagnose Bethlem myopathy on clinical grounds alone. Collagen VI immunolabelling on muscle biopsies of BM patients is often normal and the occasionally observed laminin β 1 reduction is not specific for this disorder. Evaluation on a DNA level thus remains the only reliable diagnostic tool. However, given the large number of exons involved (107 coding exons for COL6A1, COL6A2 and COL6A3) it is important to target sequence analysis effectively. Using samples with known mutation status of 21 Newcastle BM patients (7 with recognized mutations, 2 with missense changes of unknown significance and 12 in whom no mutation had been identified), we have established an immunofluorescent (IF) protocol on human fibroblast cultures that can detect abnormalities in a majority of patients with BM. We are now in the process of sequencing cDNA of a group of 19 new patients in whom prospective IF analysis has been carried out first in order to determine the predictive value of this analysis. Retrospective fibroblast analysis of the 21 Newcastle BM patients revealed a pathological IF result in all 7 patients with recognized mutations as well as 2 in whom no mutation had been identified. Mild IF abnormalities were found in the 2 patients with missense changes of unknown significance and in 4 without identified mutation. A normal IF result was found in 6 patients in whom no mutation had been identified but no patients with known or putative mutations had normal IF results. Our results suggest a sensitivity and positive predictive value of the IF protocol of >78%, a negative predictive value of >83% and a specificity >75% and prompted us to prospectively carry out IF analysis in a cohort of new patients to target subsequent genetic analysis. By sequencing the triple helical domains of all three collagen VI genes alone in our new cohort of patients, we have discovered putative mutations in 5 of the 9 patients for whom the analysis has been completed so far. Preliminary sequencing results for our new cohort of patients indicate that immunoanalysis of cultured dermal fibroblasts of patients with possible BM can effectively target genetic sequence analysis and increase our mutation detection rate." @default.
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• W2057100949 date "2006-10-01" @default.
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• W2057100949 title "P.P.7 03 Development of a diagnostic algorithm for patients with a Bethlem myopathy clinical phenotype" @default.
• W2057100949 doi "https://doi.org/10.1016/j.nmd.2006.05.226" @default.
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