Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-011-6268-6.pdf
Reference35 articles.
1. Nishino I, Spinazzola A, Papadimitriou A et al (2000) Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 47(6):792–800
2. Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283(5402):689–692
3. Shaibani A, Shchelochkov OA, Zhang S et al (2009) Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 66(8):1028–1032
4. Van Goethem G, Schwartz M, Lofgren A et al (2003) Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet 11(7):547–549
5. Tang S, Wang J, Lee N, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LC (2011) Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum. J Med Genet 48(10):669–681
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