Article
MELAS: clinical phenotype and morphological brain abnormalities.
Acta neuropathologica - 1 Sept 2003
Sparaco M, Simonati A, Cavallaro T, Bartolomei L, Grauso M, Piscioli F, Morelli L, Rizzuto N
Abstract excerpt
We describe the clinical and neuropathological findings of three unrelated autopsy cases of MELAS harboring the A3243G transition in the mitochondrial DNA (mtDNA). Using immunohistochemical techniques, we studied the expression of several subunits of the respiratory chain in various brain regions from the same cases. In all three cases there was a reduced immunocytochemical staining for mtDNA-encoded subunits of...
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