Article
Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.
Journal of clinical pathology - 1 Feb 2009
De Paepe B, Smet J, Lammens M, Seneca S, Martin J-J, De Bleecker J, De Meirleir L, Lissens W, Van Coster R
Abstract excerpt
BACKGROUND: Mitochondrial diseases display a heterogeneous spectrum of clinical phenotypes and therefore the identification of the underlying gene defect is often a difficult task. AIMS: To develop an immunohistochemical approach to stain skeletal muscle for the five multi-protein complexes that organise the oxidative phosphorylation (OXPHOS) in order to improve the diagnostic workup of mitochondrial defects....
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