Rare Disease Day

Analysis of GNE mutations


A research group at National Institutes of Health, USA have analysed 154 reported and novel gene variants associated with GNE myopathy. The authors have also predicted likely effect of those mutations on the function of GNE protein. Based on the frequency of these variations in the population they have estimated that the number of patients can be much higher than what is thought to be current number of patients worldwide. It is not clear if this discrepancy is due to lack of diagnostic facilities and or lack of awareness among physicians.

For more information: http://onlinelibrary.wiley.com/doi/10.1002/humu.22583/pdf