Acta Neuropathologica

, Volume 110, Issue 2, pp 199–202 | Cite as

Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation

  • Argirios DinopoulosEmail author
  • Jan Smeitink
  • Henk ter Laak
Letter to the Editor

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.

Among the mitochondrial disorders, complex I deficiency is encountered frequently. The first mutation in the nuclear-encoded complex I gene was found in the NDUFS8 in a patient with Leigh-like presentation [3]. Subsequently, systematic sequencing analysis resulted in the identification of mutations in NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, and NDUFV2 genes, suggestive of a high prevalence of mutations in genes encoding for catalytic subunits in complex I [11].

Fresh quadriceps muscle biopsies were performed in four...


Duchenne Muscular Dystrophy Mitochondrial Disorder Histological Hallmark Nuclear Mutation Thyrotoxic Periodic Paralysis 
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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Argirios Dinopoulos
    • 1
    Email author
  • Jan Smeitink
    • 2
  • Henk ter Laak
    • 3
  1. 1.Cincinnati Children’s Hospital Medical CenterDivision of NeurologyCincinnatiUSA
  2. 2.Nijmegen Center for Mitochondrial DisordersRadboud University Nijmegen Medical CenterNijmegenThe Netherlands
  3. 3.Departments of Pathology and NeurologyRadboud University Nijmegen Medical CenterNijmegenThe Netherlands

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