HIGHLIGHTS
- who: Josef Finsterer from the Austria Austria Austria Austria have published the Article: Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in, in the Journal: (JOURNAL)
SUMMARY
That MNGIE is only due to variants in TYMP1. MNGIE has been also reported in patients carrying mutations in POLG1, LIG1, or RRM2B. The authors also disagree with the statement in the abstract that leukoencephalopathy in MNGIE is asymptomatic. Patients with MNGIE commonly manifest with mental retardation, seizures, or features of autism. The patient had ophthalmoparesis, but double vision was not reported. What is the explanation for the . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.