682 Spinal Muscular Atrophy in Children

被引：0
|
作者：
J Paprocka
E Jamroz
J Gawryluk
机构：
[1] Silesian Medical University,Child Neurology Department
[2] Student's Scientific Society,Child Neurology Department
[3] Silesian Medical University,undefined
来源：
Pediatric Research | 2010年 / 68卷
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摘要：
Introduction: Spinal muscular atrophy (SMA) is a disease inherited as an autosomal recessive trait, the incidence in Poland is estimated at 1: 9319 births. The two genes associated with SMA are SMN1 (survival motor neuron 1gene) and SMN2 About 95-98% of individuals with SMA are homozygous for the absence of exons 7 and 8 of SMN1 and about 2-5% are compound heterozygotes for absence of exons 7 and 8 of SMN1 and a point mutation in SMN1.
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页码：347 / 347
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