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, André
European journal of medical genetics, 2017-06, Vol.60 (6), p.345-351 [Periódico revisado por pares]Netherlands: Elsevier Masson SAS
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