Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

Leigh syndrome is a subacute necrotising encephalomyopathy proven by post-mortem analysis of brain tissue showing spongiform lesions with vacuolation of the neuropil followed by demyelination, gliosis and capillary proliferation caused by mutations in one of over 75 different genes, including nuclea...

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Vydáno v:JIMD Rep
Hlavní autoři: Nafisinia, Michael, Guo, Yiran, Dang, Xiao, Li, Jiankang, Chen, Yulan, Zhang, Jianguo, Lake, Nicole J., Gold, Wendy A., Riley, Lisa G., Thorburn, David R., Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Christodoulou, John
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5362551/
https://ncbi.nlm.nih.gov/pubmed/27344648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_541
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