【摘 要】
：
Background: Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder, which is caused by mutations of survival motor neuron 1 (SMN1) gene.Approximately 90-95％ of SMA patien
【机 构】
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Department of Medical Genetics,Capital Institute of Pediatrics,Beijing,China 100020
【出 处】
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2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
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Background: Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder, which is caused by mutations of survival motor neuron 1 (SMN1) gene.Approximately 90-95％ of SMA patients have homozygous deletion of SMN1.5-10％ of patients are believed to have subtle mutations.The molecular diagnosis of SMN1 subtle mutations is hampered by highly homologous SMN2 genes.
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