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Clinical Genetics|September 1, 2017
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathyS Perrier, L Gauquelin, M Tétreault, et al.
Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.
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