TY - JOUR A1 - Petersen, Jens A. A1 - Kuntzer, Thierry A1 - Fischer, Dirk A1 - von der Hagen, Maja A1 - Veronika, Angela A1 - Lobrinus, Johannes A. A1 - Kress, Wolfram A1 - Rushing, Elisabeth J. A1 - Sinnreich, Michael A1 - Jung, Hans H. T1 - Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects JF - BMC Neurology N2 - Background: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Methods: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. Results: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 +/- 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869C>T (p.Gln957Stop), c.5928G>A (p.Trp1976Stop)). Conclusions: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c.3031 + 2T>C) suggested a possible founder effect. KW - gene mutations KW - miyoshi myopathy KW - gridle muscular-dystrophy KW - features KW - deficiency KW - heterogeneity KW - 2B KW - italian patients KW - molecular analysis KW - membrane repair Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-139920 VL - 15 IS - 182 ER -