Skip to main content
letter
. 2015 Apr 1;138(9):e380. doi: 10.1093/brain/awv082

Figure 1.

Figure 1

Sequencing results and pedigrees of CHCHD10 mutation carriers. (A) Sequencing results detecting four CHCHD10 mutations. A c.239C > T (p.P80L) mutation was found in a patient with sporadic ALS (Patient 9933) and a patient with familial ALS (Patient 8822). A c.44G > T (p.R15L) mutation was found in a patient with sporadic ALS Patient 8807. Novel mutations were found in a patient with sporadic FTLD (c.67C > A, p.P23T, Patient F150), and a patient with familial FTLD (c.104C > A, p.A35D, Patient 1069). (B) Three pedigrees of CHCHD10 mutation carriers. The arrow indicates index patient. Detailed information of CHCHD10 mutation is shown in red font beneath the diamond symbol of the corresponding carrier. MT = mutant allele; WT = wild-type allele; patterned diamond symbols = individuals with ALS, FTLD or major depression (MD).