Fig. 1

Pedigrees of 3 FTN families. Pedigrees of 3 TN families are shown. Squares indicate male family members and circles indicate female family members. A solid black circle or square denotes the diagnosis of TN. Roman numerals denote generations. The soulid line indicates that blood samples were collected and Sanger sequencing was performed, and the dotted line indicates that blood samples could not be collected for various reasons, such as death. Arrows indicate the confirmed MARS1 mutation (c.2398C > A) by Sanger sequencing. In Family 3, II-2, the proband, had a MARS mutation (c.2104C > T). The subject in Family 1 marked with numbers shows the result of Sanger sequencing, which is shown in Fig. 2