Muscle diseases - New developments

Only one and a half decades after the first neuromuscular disease gene had been identified (for Duchenne muscular dystrophy), the number of genes disc overed as being responsible for neuromuscular disorders is now about 70. Th e identification of the dystrophin led to the detection of other membrane p roteins of the muscle cell associated with dystrophin. Defects of these new ly recognized proteins are the basis underlying other muscle dystrophies. I n consequence the new knowledge not only helped to arrive at new classifica tions but also to improve the characterisation and diagnosis of muscle dise ases. In the following, research achievement in progressive muscular dystro phies, congenital myopathies and muscle diseases associated with defective excitation are reviewed.