A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy-Reference-Cited by-同舟云学术

A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

Published:2023-06 Issue: Volume:229 Page:107712
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Altuntaş Cansu,Uzunhan Tugce Aksu,Ertürk Biray,Petmezci Mey Talip,Çakar Nafiye Emel,Noyan Bilge,Dokucu Ali İhsan,Önal Hasan

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference6 articles.

1. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options;El-Hattab;Neurotherapeutics,2013

2. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy;Van Goethem;Eur. J. Hum. Genet.,2003

3. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations;Tang;J. Neurol.,2012

4. Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations;Huang;Ann. Indian Acad. Neurol.,2019

5. Alpers-and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: a case report;Korinthenberg;J. Int. Child Neurol. Assoc.,2021

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report;Journal of Central Nervous System Disease;2024-03-27

2. POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype;Clinical Neurology and Neurosurgery;2024-01