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Neurology|April 18, 2018
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variantsEline M C Hamilton, Pinar Tekturk, Fia Cialdella, et al.American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.Pageof 2