Fig. 4.

p.245L in ORAI1 causes a Stormorken-like syndrome with aggregate tubular myopathy. (A) Pedigree of the two branches of an extended family with common ancestry in mid-19th century with Stormorken-like syndrome. Branch 1 [Left branch (below generation II)] was described by Shahrizaila et al. (38). The disorder follows an autosomal-dominant inheritance pattern. The arrows indicate the proband in each branch of this family (patient 1, left arrow; patient 2, right arrow). Asterisk indicates individuals whose whole exome was sequenced. (B) Cartoon showing the location of P245 in transmembrane segment M4, and a sequence alignment of the M4 α-helix of Drosophila ORAI1 and human ORAI1-3.