Advancing Diagnostics for the Congenital Muscular Dystrophies

先天性肌营养不良症是一种发生于婴儿期的肌肉疾病。它们会导致逐渐加重的虚弱和残疾。对于超过一半的患者，目前的诊断技术无法做出具体的诊断，这常常给家庭带来极大的焦虑。这项研究将使用一种令人兴奋的新基因技术，称为外显子组测序，为这些疾病的遗传基础提供基本的见解，从而改善诊断、咨询和治疗。

The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatment.