New gene test offers personalized treatment for inherited neuromuscular disorder
The gene, GFPT1, has been identified by researchers at Newcastle University working with international colleagues, as crucial in causing a variation of Congenital Myasthenic Syndrome (CMS).
The condition came to prominence in recent times in the UK with the plight of baby RB, who was at the centre of a "right-to-life" legal dispute.
CMS is a rare genetic condition affecting the way signals travel between the brain and muscles which can cause paralysis and in some cases death. It affects one in every 500,000 births and the severity of the condition varies, depending ...






