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. 1999 Nov 15;104(10):1403–1410. doi: 10.1172/JCI8179

Figure 2.

Figure 2

(a) Schematic presentation of the positions of the identified mutations in the AChR β subunit gene. (b) Multiple alignment of the long cytoplasmic loop of AChR subunits around the β1276del9 mutation. β1276del9 predicts an in-frame deletion of EQE codons at 426–428 (underlined). (c) Size fractionation of PstI-digested PCR products amplified from genomic DNA from blood of family members. The β1276del9 mutation results in a 61-bp fragment, whereas the wild-type allele gives rise to a 70-bp fragment. The father and 3 affected siblings are heterozygous for β1276del9. Arrow indicates patient; filled symbols indicate affected individuals. (d) Size fractionation of RT-PCR products of the AChR β subunit gene amplified with primers in exon 7 and 9. The normal transcript yields a 350-bp fragment; skipping of exon 8 results in a 126-bp fragment. Mother and patient carry both transcripts. Skipping of exon 8 was confirmed by direct sequencing.