Table 1:
Demographic, genetic, and clinical features of patients with MNGIE
| Case No. | Age at MRI (yr)/Sex | TYMP Mutationa | Mutation Type | TP Activity | Age at Neurologic Onset | Age at Gastroenterologicb Onset |
|---|---|---|---|---|---|---|
| 1 | 23/F | c.1249 dupC | Frame shift | Undetectable | 20 yr (ptosis/CPEO) | Childhood |
| 2 | 29/F | c.1160–2A>G and c.1382_1383insC | Splice defect Frame shift | Undetectable | Childhood (CPEO) | Childhood |
| 3 | 28/M | c.215–1G>A and c.328C>T | Splice defect p. Q110X | Undetectable | 24 yr (ptosis/CPEO) | 20 yr |
| 4 | 27/F | c.1160–1G>A | Splice defect | Very low | 20 yr (ptosis/CPEO) | Childhood |
| 5 | 38/M | c.522T>A | Splice defect | Undetectable | 37 yr (ptosis/CPEO) | 30 yr |
| 6 | 25/M | c.1160–1G>A | Splice defect | Very low | 25 yr (peripheral neuropathy) | 19 yr |
| 7 | 36/M | c.457G>A | p. G153S | Undetectable | Childhood (ptosis) | 25 yr |
Note:—CPEO indicates chronic progressive external ophthalmoplegia; TP, thymidine phosphorylase.
a
All homozygote.
b
Main gastroenterologic symptoms included irritable bowel and/or functional dyspepsia-like symptoms.