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Table 3 Single heterozygous mutations identified in NEB in three families presenting with fetal hypokinesia-NEM

From: Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

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)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172