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Acta Myol. 2006 Dec;25(3):109-15.

Desmin mutations in a St. Petersburg cohort of cardiomyopathies.

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Department of Woman and Child Health, and Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.


Several desmin mutations have been described over the past few years in patients with dilated and restrictive cardiomyopathy, often in association with distal myopathy. However, the role of desmin mutations as a cause of various types of cardiomyopathy is still undetermined. The aim of this study was to analyse the frequency of desmin mutations in patients with cardiomyopathy identified and diagnosed in the St. Petersburg area of Russia. We screened 98 patients with dilated, 40 with hypertrophic and 4 with restrictive cardiomyopathy. All exons of the desmin gene were amplified by PCR and studied by sequencing. Two out of 98 patients showed the presence of desmin gene mutations, not previously described in dilated cardiomyopathy. A novel IVS2-2A-->G splice site mutation, presumably causing skipping of exon 3, was detected in a case of familial right ventricular dilated cardiomyopathy. An A213V mutation was associated with a case of late onset dilated cardiomyopathy. No desmin mutations were found in patients with hypertrophic or restrictive cardiomyopathy. Desmin mutations should be considered a relatively rare cause of dilated cardiomyopathy in this specific geographic area.

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