Browsing by Author "Meissner-Roloff, Madelein"
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Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia
Van der Westhuizen, Francois H.; Levanets, Oksana; Meissner-Roloff, Madelein; Louw, Roan; Smet, Joél (Springer, 2010)A young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and ptosis, as well as cardiac conduction abnormalities resembling Kearns–Sayre syndrome (KSS). Magnetic ... -
The occurrence of mitochondrial DNA polymerase gamma gene mutations in mitochondrial deficiencies, in a selection of South African paediatric patients
Meissner-Roloff, Madelein (North-West University, 2009)Mitochondria are the "power houses" of each cell, sustaining the cell's energy demands by providing energy in the form of adenosine triphosphate (ATP). ATP is produced inside the mitochondria during cellular oxidative ...