Genotypes and Phenotypes of distal myopathy

Introduction: In the past, distal myopathy was clinically characterized by the type of the distal weakness and its beginning, the creatin kinase activity, the histopathology and genetic aspects. In some cases, the etiologic genetic defect is already known. In this case 26 patients with distal myopathy were analysed. 10 patients (38%) were categorised in the common forms, 16 patients couldn't be classified. Results: For ten patients we found the genetic cause. A dysferlin gene mutation was found for three patients with Miyoshi phenotype. Two of five patients with phenotype of Marksberry-Griggs myopathy showed the…