Copyright
©The Author(s) 2021.
World J Clin Cases. Aug 26, 2021; 9(24): 7169-7174
Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7169
Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7169
Table 1 Clinical characteristics of pedigree
II-5 | II-7 | II-8 | III-1 | III-3 | III-4 | III-5 | |
Age at evaluation | 66 | 61 | 61 | 51 | 36 | 34 | 32 |
Education level | II | II | II | III | IV | IV | IV |
MMSE (/30) | 27 | 26 | 28 | 29 | 30 | 30 | 30 |
MoCA (/30) | 26 | 19 | 27 | 28 | 30 | 29 | 29 |
Clinic symptom | - | + | - | - | - | - | - |
Calcifications on CT | + | + | - | - | - | - | - |
Total calcification score | 54 | 10 | 0 | 0 | 0 | 0 | 0 |
MYORG mutation | + | + | - | - | + | + | + |
c.1438T>G mutation | - | + | - | - | - | - | + |
c.1271_1272 TGGTGCGC insertion mutation | + | + | - | - | + | + | - |
- Citation: Fei BN, Su HZ, Yao XP, Ding J, Wang X. Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report. World J Clin Cases 2021; 9(24): 7169-7174
- URL: https://www.wjgnet.com/2307-8960/full/v9/i24/7169.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v9.i24.7169