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Table 1 Summary of the information of the five DMD families

From: Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach

Family ID

Mutation

(hg19, NM_004006)

Maternal genotype

Gestational age (week)

Maternal age (year)

D1

c.5697_5698insA

(p.Lys1899LysfsTer7)

heta

12

31

D2

c.1231A > T

(p.Lys411Ter)

het

12

29

D3

c.1929G > A

(p.Trp643Ter)

het

12

26

D4

c.2305G > T

(p.Glu769Ter)

Normal

12

31

D5

Exon 12 deletion

het

11

32

  1. ahet: Heterozygous