A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy
Jackson, Christopher B., Hahn, Dagmar, Schröter, Barbara, Richter, Uwe, Battersby, Brendan J., Schmitt-Mechelke, Thomas, Marttinen, Paula, Nuoffer, Jean-Marc, Schaller, AndréLanguage:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2017.04.006
Date:
April, 2017
File:
PDF, 1.75 MB
english, 2017