PMC2808567_01
Pedigree of the HOPP family. The dark symbols are affected individuals. The proband is indicated by an arrow. The age of the family members is designated by the number.
jkms-20-162-g001.jpg
PMC2808567_01_jkms-20-162-g001.jpg
F1
In family history, his mother (41 yr old), maternal-grandmother (81 yr old), maternal aunt (55 yr old) and her two sons (the patient's cousins, 23 and 27 yr old) were also suffering from similar attacks of weakness or paralysis throughout their lives (Fig. 1).
Schematic diagram of the DHP receptor alpha1-subunit composed of four domains of an internal homology (DI to DIV) connected by intracellular loops. The R1239G mutation substitutes a positively-charged arginine located within segment DIVS4 by a neutral glycine.
jkms-20-162-g002.jpg
PMC2808567_01_jkms-20-162-g002.jpg
F2
This mutation predicts codon change from arginine to glycine at amino acid position #1239 of axon 30 in the calcium channel gene (Fig. 2).