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Single heterozygous mutations identified in NEB in three families presenting with fetal hypokinesia-NEM
| Family | Exon/(Intron) | c. DNA change NM_001164507.1 | Amino acid change | Comments |
|---|---|---|---|---|
| 17 | (5) | c.78+1G>A | ||
| 18 | 29 | c.2864G>A | p.Trp955* | Also present in affected sib |
| 19 | 55 | c.7523_7526del4 | p.Ile2508Thrfs * | Affected sib (no DNA available) |
