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Table 2 The general and clinical characteristics of children in different subtypes of SMA

From: New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy

  Type I (%)
(n = 41)
Type II (%)
(n = 29)
Type III (%) (n = 5) Total (%) (n = 75) P Value*
Gender*
 Boy 24 (58.54) 19 (65.52) 3 (60) 46 (61.33)  
 Girl 17 (41.46) 10 (34.48) 2 (40) 29 (38.67)  
Clinical symptoms*
 Congenital heart disease 3 (7.32) 0 0 3 (4) 0.5137
 Respiratory failure 6 (14.63) 2 (6.90) 0 8 (10.67) 0.7308
 Muscular atrophy 20 (48.78) 13 (44.83) 2 (40) 35 (46.67) 0.9835
 EMG abnormalities 39 (95.12) 28 (96.55) 4 (80) 71 (94.67) 0.4405
Prenatal*
 Ultrasonography abnormalities 0 0 0 0 -
 Decreased fetal movement 3 (7.32) 2 (6.90) 0 5 (6.67) 1.0000
CK value*
 Normal 6 (14.63) 8 (27.59) 2 (40) 16 (21.33) 0.3391
 Elevation 35 (85.37) 21 (72.41) 3 (60) 59 (78.67)  
Molecular detection
 Homozygous mutation at c.840 C > T in SMN gene 40 (97.56) 26 (89.66) 5 (100) 71 (94.67)  
 Deletion of NAIP exon4 and 5 6 (14.63) 0 0 6 (8)  
 Deletion of NAIP exon4 3 (7.32) 0 0 3 (4)  
 Deletion of GTF2H2 exon10 2 (4.88) 1 (3.45) 0 3 (4)  
  1. *Fisher’s exact test