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Browsing Research Articles (Paediatrics and Child Health) by Subject "Aberrant synthesis"

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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 Hendrikus; Smet, Joel; Levanets, Oksana; Meissner-Roloff, Madelein; Louw, Roan; Van Coster, Rudy; Smuts, Izelle (Springer, 2010-01)

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 ...

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