Table 1:

Demographic, genetic, and clinical features of patients with MNGIE

Case No.	Age at MRI (yr)/Sex	TYMP Mutation^{^a}	Mutation Type	TP Activity	Age at Neurologic Onset	Age at Gastroenterologic^{^b} 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.