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A new line method; A direct test in spinal muscular atrophy screening for DBS
1 INTRODUCTION SMA is one of the most common autosomal-recessive diseases, with an incidence of ~1 in 6000–10,000 live births and a carrier frequency of 1 in 35–117, depending on ethnicity (Hendrickson et al., 2009; Luo et al., 2014). The disease is characterized by the progressive degeneration and loss of anterior horn cells in the spinal cord and brainstem nuclei causing symmetric muscle weakness and atrophy (Meldrum et al., 2007).
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