A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

Prasanth Potluri, Antonio Davila, Eduardo Ruiz-Pesini, Dan Mishmar, Sean O'Hearn, Saege Hancock, Mariella Simon, Immo E. Scheffler, Douglas C. Wallace, Vincent Procaccio

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Biochemistry, Genetics and Molecular Biology