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Table 2 Frequency of small mutations at DMD

From: Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy

Type of small mutation

Frequency in families with DMD(n = 200)

Frequency in families with BMD(n = 5)

Total (n = 205)*

Missense

13

2

15 (7.32%, 15/205)

Frameshift

57

1

58 (28.29%, 58/205)

Nonsense

100

2

102 (49.76%, 102/205)

Splice sites

30

0

30 (14.63%, 30/205)

  1. *:The detection frequency of small mutations was 205 in 201 families. Among them, more than one small mutation types was found in three families respectively. One families had splicing mutations c.94-9dupT and nonsense mutation c.100A > T(p.Lys34*), one families had missense mutations c.8729A > T(p.Glu2910Val) and c.8734A > G(p.Asn2912Asp) and the other families had splice sites mutation c.9164-2A > G and missense mutations c.5163G > C, c.3226C > G
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BMC Medical Genetics

ISSN: 1471-2350

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