Table 2 Amplification results of the different subject groups: “deleted group”, “carrier group” and “control group”.

From: Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Subject group	Target DMD exon					Genotype^d	Number of patients
Subject group	Exon 44	Exon 46	Exon 50	Exon 52	Exon 54	Genotype^d	Number of patients
Deleted group	Del*	Ampli*	Ampli	Ampli	Ampli	del_13-44	n = 34 (total)
Deleted group	Del	Ampli	Ampli	Ampli	Ampli	del_44
Deleted group	Del	Ampli	Ampli	Ampli	Ampli	del_20-44
Deleted group	Del	Ampli	Ampli	Ampli	Ampli	del_20-44
Deleted group	Ampli	Del	Del	Del	Del	del_46-55
Deleted group	Ampli	Del	Del	Del	Del	del_45-55
Deleted group	Ampli	Del	Del	Del	Del	del_45-55
Deleted group	Ampli	Del	Del	Del	Del	del_45-55
Deleted group	Ampli	Del	Del	Del	Del	del_45-55
Deleted group	Ampli	Del	Del	Del	Ampli	del_46-53
Deleted group	Ampli	Del	Del	Del	Ampli	del 46–52
Deleted group	Ampli	Del	Del	Ampli	Ampli	del_45-50
Deleted group	Ampli	Del	Del	Ampli	Ampli	del_45-50
Deleted group	Ampli	Del	Del	Ampli	Ampli	del_45-50
Deleted group	Ampli	Del	Del	Ampli	Ampli	del_45-50
Deleted group	Ampli	Del	Del	Ampli	Ampli	del_45-50
Deleted group	Ampli	Del	Del	Ampli	Ampli	del_45-50
Deleted group	Ampli	Del	Del	Ampli	Ampli	del_45-50
Deleted group	Ampli	Del	Ampli	Ampli	Ampli	del_45-47
Deleted group	Ampli	Del	Ampli	Ampli	Ampli	del_45-47
Deleted group	Ampli	Del	Ampli	Ampli	Ampli	del_45-47
Deleted group	Ampli	Del	Ampli	Ampli	Ampli	del_45-46
Deleted group	Ampli	Del	Ampli	Ampli	Ampli	del_46-48
Deleted group	Ampli	Del	Ampli	Ampli	Ampli	del_45-48
Deleted group	Ampli	Del	Ampli	Ampli	Ampli	del_45-48
Deleted group	Ampli	Ampli	Del	Del	Del	del_48-55
Deleted group	Ampli	Ampli	Del	Del	Del	del_49-54
Deleted group	Ampli	Ampli	Del	Del	Del	del_49-54
Deleted group	Ampli	Ampli	Del	Ampli	Ampli	del_50
Deleted group	Ampli	Ampli	Del	Ampli	Ampli	del_50
Deleted group	Ampli	Ampli	Del	Ampli	Ampli	del_50
Deleted group	Ampli	Ampli	Ampli	Del	Del	del_51-55
Deleted group	Ampli	Ampli	Ampli	Del	Del	del_51-64
Deleted group	Ampli	Ampli	Ampli	Del	Ampli	del_52
Deleted group	Ampli	Ampli	Ampli	Ampli	Ampli	N/A^a	n = 17
Carrier group	Ampli	Ampli	Ampli	Ampli	Ampli	N/A^b	n = 32
Carrier group	Ampli	Ampli	Ampli	Ampli	Ampli	N/A^c	n = 18
Control group	Ampli	Ampli	Ampli	Ampli	Ampli	Normal	n = 19

a = male patients with a DMD deletion not overlapping any of the 5 target exons.
b = female subjects carrying a DMD deletion overlapping at least one of the 5 target exons.
c = female subjects carrying a DMD deletion not overlapping any of the 5 target exons.
d = Deleted exons were identified through MLPA. Intronic breakpoints have not been sequenced; genotypes are reported according to the LOVD-DMD database.
*Results show if the target exon is deleted (Del) or amplified (Ampli).
N/A Not Applicable.

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Table 2 Amplification results of the different subject groups: “deleted group”, “carrier group” and “control group”.

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