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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)