Underlying conditions in the 19 patients with positive samples are shown in Fig. 2 and were muscular dystrophies: limb girdle muscular dystrophy (n=1), merosin-deficient muscular dystrophy (n=3), Duchenne muscular dystrophy (n=2), Becker muscular dystrophy (n=1); Spinal muscular atrophy type 1 (n=3), Spinal muscular atrophy type 2 (n=2), unclassified (n=2), congenital myasthenia (n=1), congenital myotonic dystrophy (n=2), Charcot-Marie Tooth (n=1) and congenital myopathy (n=1). The gene discussed is LAMA2; the disease is spinal muscular atrophy, type II.