Fig. 1

Sequencing of the LAMB2 gene. a DNA sequencing profile showing exon9 c.1176_1178delTCT mutation in LAMB2, which was derived from the patient’s mother. The arrow indicates the position of the mutation. b The intron 29 c.4923 + 2 T > G mutation in LAMB2 was inherited from the patient’s father. The arrow indicates the position of the mutation