Erschienen in:
01.08.2005 | Letter to the Editor
Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation
verfasst von:
Argirios Dinopoulos, Jan Smeitink, Henk ter Laak
Erschienen in:
Acta Neuropathologica
|
Ausgabe 2/2005
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Excerpt
We examined the histopathological finding in muscle of four patients with known nuclear mutations of complex I subunits. No ragged-red fibers were present, and the only abnormal finding on light microscopy was universal small fibers in three of them. At the ultrastructural level, evidence of mitochondrial degeneration was observed in the form of lipofuscin formation in a case with NDUFS2 mutation and in the form of concentric laminated bodies in a case with NDUFS8 mutation. …