Table 1

 Five splicing, one frameshift, and one missense mutations in CHRNE in the five patients

No.MutationPosition on genomic DNASplicing consequence
*Homozygous mutation. †Characterised using transfected COS cells. ‡Characterised using muscle mRNA. NA, not applicable. §We previously reported that P245L is a low expressor mutation that also prolongs channel opening events two fold.18
1g.IVS6-1G→C*3′ splice site of intron 6Active cryptic 3′ splice site†
2g.IVS9-1G→A*3′ splice site of intron 9Retention of intron 9†
Skipping of exon 10†
3g.IVS10-9_c.1167dup16*16 bp duplication comprising 8 bp at 3′ end of intron 10 and 8 bp at 5′ end of exon 11Silencing of downstream 3′ splice site†
4c.1259_g.IVS11+15del2323 bp deletion comprising 8 bp at 3′ end of exon 11 and 15 bp at 5′ end of intron 11Retention of intron 11‡
c.1033delGexon 10 (61st nucleotide)NA
5c.857G→T (p.R286M)G→T substitution at 3′ end of exon 8Skipping of exon 8†
c.734C→T (p.P245L§)exon 7 (193rd nucleotide)NA