Mitochondrial neurogastrointestinal encephalomyopathy
Definition:
References:
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[1]. Aziz Shaibani, et al. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009 Aug;66(8):1028-32. [Content Brief]
[2]. Elena Bonora, et al. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021 Jun 22;144(5):1451-1466. [Content Brief]
[3]. Gert Van Goethem, et al. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet. 2003 Jul;11(7):547-9. [Content Brief]
[4]. I Nishino, et al. MNGIE: from nuclear DNA to mitochondrial DNA. Neuromuscul Disord. 2001 Jan;11(1):7-10. [Content Brief]
[5]. I Nishino, et al. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 1999 Jan 29;283(5402):689-92. [Content Brief]
[6]. Sha Tang, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol. 2012 May;259(5):862-8. [Content Brief]
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