New rare muscle disorder discovered
Wednesday, March 22, 2017 - 12:02
in Biology & Nature
A new rare muscle disorder has been identified by researchers. This hereditary disease is caused by a defect in the BICD2 gene that manifests itself in altered cellular transport processes in skeletal muscle cells. Patients suffer from muscle weakness in the legs, an unsteady gait and permanent risk of stumbling. BICD2 had been known as a disease trigger, but only for disorders originating in the nervous system. A BICD2 syndrome that manifests itself in altered skeletal muscles had never before been described.