Table 1 Summary of the histological and histochemical findings of the muscle biopsy of patient A1.
From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
Histological findings | Light microsopy: Atrophic, angular muscle fibers |
Electron microscopy: subsarcolemmal aggregates, morphologically normal mitochondria | |
Histochemical findings | Ragged red fibers |
Cytochrome c oxidase negative fibers |