Mitochondrial functions are intrinsically linked to their morphology and membrane
ultrastructure. Characterizing abnormal mitochondrial structural features may thus provide
insight into the underlying pathogenesis of inherited and acquired mitochondrial diseases.
Following a systematic literature review on ultrastructural defects in mitochondrial myopathy,
we investigated skeletal muscle biopsies from seven subjects with genetically defined
mtDNA mutations. Mitochondrial ultrastructure and morphology were characterized using …