A L Andreu, M G Hanna, H Reichmann, C Bruno, A S Penn, K Tanji, F Pallotti, S Iwata, E Bonilla, B Lach, J Morgan-Hughes, S DiMauro
BACKGROUND: The mitochondrial myopathies typically affect many organ systems and are associated with mutations in mitochondrial DNA (mtDNA) that are maternally inherited. However, there is also a sporadic form of mitochondrial myopathy in which exercise intolerance is the predominant symptom. We studied the biochemical and molecular characteristics of this sporadic myopathy. METHODS: We sequenced the mtDNA cytochrome b gene in blood and muscle specimens from five patients with severe exercise intolerance, lactic acidosis in the resting state (in four patients), and biochemical evidence of complex III deficiency...
September 30, 1999: New England Journal of Medicine