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Table 2 The novel mutations diagnosed by NGS

From: Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center

Familiy numberAge of proband (years old)CK value (U/L)ExonIDBase changeEffectMutation typeCarrier status of mother
1388616Exon6c.412A > Tp.Lys138*NonsenseYes
16312,817Exon23c.2962delTp.Ser988Leufs*16Small deletionsYes
1719880Exon75c.10705A > Tp.Lys3569*NonsenseYes
181019,964Exon47c.6850dupAp.Ser2284Lysfs*7Small insertionsYes
19114880Exon36c.5139dupAp.E1714Rfs*5Small insertionsYes
2056179Exon43c.6201_6203delGCCinsCCCAp.Val2069Cysfs*14Small deletions and insertionsYes
  1. CK Creatine kinase