Article
Preimplantation genetic diagnosis of spinal muscular atrophy.
Molecular human reproduction - 1 Sept 1998
Dreesen J C, Bras M, de Die-Smulders C, Dumoulin J C, Cobben J M, Evers J L, Smeets H J, Geraedts J P
Abstract excerpt
After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly homologous SMN copy gene complicates the detection of exon 7 deletions. This paper describes the adjustment and evaluation...
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