Article
Spinal muscular atrophy: from gene discovery to clinical trials.
Annals of human genetics - 1 Sept 2013
Nurputra Dian K, Lai Poh San, Harahap Nur Imma F, Morikawa Satoru, Yamamoto Tomoto, Nishimura Noriyuki, Kubo Yuji, Takeuchi Atsuko, Saito Toshio, Takeshima Yasuhiro, Tohyama Yumi, Tay Stacey K H, Low Poh Sim, Saito Kayoko, Nishio Hisahide
Abstract excerpt
Spinal muscular atrophy (SMA) is a common neuromuscular disorder with autosomal recessive inheritance, resulting in the degeneration of motor neurons. The incidence of the disease has been estimated at 1 in 6000-10,000 newborns with a carrier frequency of 1 in 40-60. SMA is caused by mutations of the SMN1 gene, located on chromosome 5q13. The gene product, survival motor neuron (SMN) plays critical roles in a...
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