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Table 1 Genotype of SMA patients.

From: Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

Biopsy code SMA
type
Sex Age at biopsy
(years)
SMN1
Deletion
SMN2
copy number
NAIP
deletion
SMA I samples
A 1A M 0,2 7,8 ex. 2 NO
B 1B F 0,3 7 ex. 2 NO
C 1B M 0,5 7,8 ex. 2 NO
D 1B F 0,9 7,8 ex. 2 NO
SMA I control
Cont. 1 NO M 0,6 NO - NO
SMA III samples
E 3A M 7 7 ex. 3 NO
F 3A F 7 7,8 ex. 2 NO
G 3A F 8 7,8 ex. 3 NO
H 3A F 7 7,8 ex. 4 NO
I 3A F 11 7,8 ex. 4 NO
SMA III control
Cont. 2 NO M 8 NO - NO
  1. High-molecular weight genomic DNA was obtained from all patients with SMA type I and III enrolled for this study. This was used to control for the presence of SMN1 and NAIP gene deletions and SMN2 copy number. Genomic DNA from age-matched unaffected donors was used to perform parallel control analyses.