Figure 1.

Identification of CHRM3 mutation in Malaysian family. A, Family pedigree of Malaysian family, who were screened by Sanger sequencing for the c.352G > A variant, indicated by *. Filled in symbols represent affected individuals. B, Schematic diagram showing that the variant alters a residue within the second transmembrane domain of the M3 acetylcholine receptor and segregated with disease in the affected family. The diagram also depicts the frameshift variant identified by Weber et al.1 C, Predicted second transmembrane domain, the identified mutation alters a conserved glycine (G) residue which is highly conserved. D ‐ F, Genomic sequence chromatograms. ‐ D, I:1, I:2, II:1, II:3 Heterozygous for variant (unaffected carriers) (E) II:4, II:6 Homozygous for variant (affected) (F) II:5 Wild type (unaffected) [Colour figure can be viewed at http://wileyonlinelibrary.com]